ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.885T>C (p.Ala295=)

dbSNP: rs1688188420
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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 RCV001191246 SCV001358990 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-03-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005094009 SCV005775784 likely benign Ehlers-Danlos syndrome, type 4 2024-02-07 criteria provided, single submitter clinical testing

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