ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.639C>A (p.Gly213=)

dbSNP: rs2153501865
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001524136 SCV001733910 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-11-23 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004007256 SCV004831256 likely benign Ehlers-Danlos syndrome, type 4 2023-11-28 criteria provided, single submitter clinical testing

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