ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.1424C>T (p.Ala475Val) (rs770168441)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181051 SCV000233326 likely benign not specified 2014-08-19 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.
Ambry Genetics RCV000248331 SCV000317731 uncertain significance Cardiovascular phenotype 2016-05-19 criteria provided, single submitter clinical testing Insufficient evidence
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170890 SCV001333515 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2018-10-30 criteria provided, single submitter clinical testing
Color RCV001170890 SCV001357971 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2020-01-23 criteria provided, single submitter clinical testing

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