ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.3678T>C (p.Asp1226=)

dbSNP: rs1688661575
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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 RCV001190028 SCV001357439 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-12-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002069100 SCV002391699 likely benign Ehlers-Danlos syndrome, type 4 2022-03-27 criteria provided, single submitter clinical testing

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