ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.2242G>A (p.Gly748Ser) (rs771585795)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Human Genetics,Children's Hospital of Philadelphia RCV000477906 SCV000536873 uncertain significance Ehlers-Danlos syndrome, type 4 2016-03-16 no assertion criteria provided research
GeneDx RCV000181056 SCV000233332 likely benign not specified 2015-02-27 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.

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