ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.3776C>T (p.Ala1259Val)

gnomAD frequency: 0.00002  dbSNP: rs148387626
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000604562 SCV000730546 likely benign not specified 2017-05-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health RCV001186318 SCV001352701 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-02-24 criteria provided, single submitter clinical testing
Invitae RCV001400597 SCV001602402 likely benign Ehlers-Danlos syndrome, type 4 2024-01-02 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001400597 SCV004827580 likely benign Ehlers-Danlos syndrome, type 4 2023-10-02 criteria provided, single submitter clinical testing

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