Join the Network

Whether you're a patient, parent, clinician, researcher, or supporter — there's a place for you in the Collagen Advocacy Network.

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.

Your privacy matters. We collect only the information needed to welcome you into our community. Your data is securely stored and never shared with third parties.

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 family members of people with, confirmed pathogenic variants (no VUS) of one of the rare forms of Ehlers-Danlos Syndrome.

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

Please explain *

Was the diagnosis confirmed via a geneticist? *

Date of Diagnosis *

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

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I am a... *

Are you interested in attending monthly virtual social events? *

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Are you interested in attending monthly virtual advocacy events? *

Yes No

Any accessibility needs for emails, events, etc.?

Please complete the required fields above before joining.

Welcome to the Network!

Thank you for joining the Collagen Advocacy Network. We'll be in touch soon. Together, we are #definedbycollagen.

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What is a Variant of Uncertain Significance (VUS)?

A VUS is a common result from a genetic sequencing test. Most individuals will have at least one VUS identified during genetic testing.
A VUS is usually not disease-causing. It is estimated that only 1–9% of VUS are actually disease-causing.
A VUS on a gene associated with a rare form of EDS does not in any case confirm a diagnosis of that type of EDS.
Direct-to-consumer sequencing platforms and raw-data interpretation services like sequencing.com often report large numbers of variants without clinical curation, which can lead to misinterpretation of VUS.
In some rare cases, VUS may be reclassified as likely pathogenic or pathogenic if more data suggests a disease-causing role.
For autosomal recessive forms of EDS, two pathogenic variants (one from each parent) are required for diagnosis. A single VUS in such a gene does not indicate that a person has the disease, and in fact means you do not have the disease.

Our policy

This network is intended for individuals with molecularly confirmed rare forms of Ehlers-Danlos syndrome. Variants of Uncertain Significance (VUS) are common findings in genetic testing and do not confirm the presence of a genetic disorder. For this reason, individuals whose only genetic finding is a VUS are not included within the scope of this community.

This boundary 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.