ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.2904G>A (p.Arg968=)

gnomAD frequency: 0.00001  dbSNP: rs780866547
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000601736 SCV000722715 likely benign not specified 2017-09-08 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001406803 SCV001608761 likely benign Ehlers-Danlos syndrome, type 4 2022-06-08 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001406803 SCV004818160 likely benign Ehlers-Danlos syndrome, type 4 2023-11-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV004024951 SCV005032219 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-11-17 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.

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