ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.531C>A (p.Gly177=)

gnomAD frequency: 0.00001  dbSNP: rs41272797
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002310849 SCV000318730 benign Familial thoracic aortic aneurysm and aortic dissection 2022-01-06 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV001576468 SCV001803668 likely benign not provided 2021-05-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002058498 SCV002434387 likely benign Ehlers-Danlos syndrome, type 4 2024-01-30 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV002058498 SCV004833006 likely benign Ehlers-Danlos syndrome, type 4 2023-12-01 criteria provided, single submitter clinical testing

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