ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.3375T>C (p.Gly1125=)

dbSNP: rs1355734194
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000634733 SCV000756076 likely benign Ehlers-Danlos syndrome, type 4 2022-09-07 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001185556 SCV001351805 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-10-28 criteria provided, single submitter clinical testing

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