ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.1978-13G>A

gnomAD frequency: 0.00001  dbSNP: rs763906653
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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 RCV001192069 SCV001360014 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-01-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003523078 SCV004335274 likely benign Ehlers-Danlos syndrome, type 4 2024-08-07 criteria provided, single submitter clinical testing

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