Join Us

Request access to a patient and family community for people affected by molecularly confirmed rare forms of Ehlers-Danlos syndrome. Every request is reviewed by our team.

Why Join?

Connect with others who share your rare EDS subtype
Access educational resources about monogenic collagen disorders
Participate in research initiatives
Help advocate for improved clinical understanding
Be part of a community that truly represents you

About VUS & Eligibility

This network is intended for individuals with molecularly confirmed rare forms of Ehlers-Danlos syndrome. Variants of Uncertain Significance (VUS) do not confirm a diagnosis.

Clinician, researcher, or supporter?

Discord intake is for patients and their families. Professionals and supporters can contact our professional outreach team.

Your privacy matters. We collect only the information needed to review your Discord community request. Only our review team can see it, and we delete your genetic report within 7 days. See our Consumer Health Data Privacy Policy and Survey Privacy Notice.

Your Info

Diagnosis

Community

Full Name *

Email Address *

Age

Country and Time Zone *

Please complete the required fields above before continuing.

Eligibility

This community is for people with, or parents of children with, a rare form of Ehlers-Danlos syndrome confirmed by a pathogenic or likely pathogenic variant. A variant of uncertain significance (VUS) does not qualify.

Type of EDS you (or your child) were diagnosed with *

Please explain *

Was the diagnosis confirmed via a geneticist? *

Date of Diagnosis *

Genetic test report *

Upload the lab report that shows your (or your child's) pathogenic or likely pathogenic variant. PDF, JPEG or PNG, up to 3 files of 15 MB each.

You may black out everything except the patient's name, the gene, the variant classification and the EDS type, for example your address, date of birth or insurance numbers. Only the CAN officers who verify eligibility can view your document. We delete it once we have reviewed it, and always within 7 days.

Are you the only member of your family with your type of EDS?

Have you ever felt there is a lack of information, resources, and awareness of your type of EDS? *

Yes No

Please complete the required fields above before continuing.

I am a... *

Are you interested in attending monthly virtual social events? *

Yes No

Are you interested in attending monthly virtual advocacy events? *

Yes No

Any accessibility needs for emails, events, etc.?

Tell me about research opportunities

Optional. We may email you about studies looking for people with your type of EDS. You can stop at any time, and saying no does not affect your membership.

I consent to CAN using my genetic information only to verify my eligibility for CAN's members-only community and, if I opt in, for CAN surveys and research opportunities, as described in CAN's Consumer Health Data Privacy Policy and Survey Privacy Notice. If I am applying for my child, I am their parent or legal guardian. *

Please complete the required fields above before joining.

We received your request.

Our team reviews each Discord community request, including your genetic report, which we delete within 7 days. If your request is approved, we will contact you with an invitation.

Something went wrong. Please try again.

What is a Variant of Uncertain Significance (VUS)?

A VUS is a common result of genetic testing. On large panels or exome sequencing, most people will have at least one.
A VUS is usually not disease-causing. When VUS are reclassified, the large majority are downgraded to benign or likely benign. Only a small fraction are upgraded.
A VUS in a gene associated with a rare form of EDS does not confirm a diagnosis of that type.
Direct-to-consumer sequencing and raw-data interpretation services (such as sequencing.com) often report large numbers of variants without clinical curation, which can lead to misinterpretation of VUS.
A VUS may be reclassified as likely pathogenic or pathogenic if new evidence supports a disease-causing role. If yours is, you are welcome to reapply.
Recessive forms of EDS (clEDS, dEDS, kEDS, mcEDS, spEDS, BCS, cvEDS, and some cases of mEDS) require two disease-causing variants in the same gene, one on each copy. A single variant, whether VUS or pathogenic, is not sufficient for diagnosis and most often indicates carrier status.

Our policy

This network is for individuals with molecularly confirmed rare forms of Ehlers-Danlos syndrome: a pathogenic or likely pathogenic variant (two, for recessive types) identified through testing at an accredited clinical laboratory.

Because a VUS does not confirm a genetic disorder, individuals whose only finding is a VUS are not within the scope of this community. This is not a judgment of anyone's symptoms or experience. It allows us to maintain a focused space for people with genetically defined rare EDS types, a group that has historically lacked representation and dedicated support.

Sources

Richards, S., et al. (2015). Standards and Guidelines for the Interpretation of Sequence Variants. Genetics in Medicine, 17(5), 405–424.
Mersch, J., et al. (2018). Cancers associated with BRCA1 and BRCA2 pathogenic variants: Variant reclassification and clinical implications. Genetics in Medicine, 20(6), 620–628.
Amendola, L., et al. (2016). Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories. American Journal of Human Genetics, 98(6), 1067–1076.
Gordon, A.S., et al. (2020). Frequency of Variant Reclassification Following Hereditary Cancer Genetic Testing. JAMA Network Open, 3(9).
Harrison, S.M., et al. (2019). Using ClinVar as a Resource to Support Variant Interpretation. Current Protocols in Human Genetics, 103(1).
Wenger, A.M., et al. (2017). The Clinical Impact of Variants of Uncertain Significance in Genetic Testing. Genetics in Medicine.