ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.2853G>A (p.Gly951=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003172427 SCV003868321 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-01-16 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
All of Us Research Program, National Institutes of Health RCV004009644 SCV004830610 likely benign Ehlers-Danlos syndrome, type 4 2023-04-10 criteria provided, single submitter clinical testing

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