ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.1032T>G (p.Pro344=)

dbSNP: rs1688218162
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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 RCV001184692 SCV001350728 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-03-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003633571 SCV004559228 likely benign Ehlers-Danlos syndrome, type 4 2023-10-06 criteria provided, single submitter clinical testing

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