ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.621G>A (p.Gly207=)

gnomAD frequency: 0.00001  dbSNP: rs779352711
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000634729 SCV000756071 likely benign Ehlers-Danlos syndrome, type 4 2023-03-25 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001175624 SCV001339293 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-07-15 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000634729 SCV004831234 likely benign Ehlers-Danlos syndrome, type 4 2023-06-15 criteria provided, single submitter clinical testing

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