ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.1716+12G>A (rs745767713)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000241738 SCV000303979 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000241738 SCV000512718 likely benign not specified 2016-12-06 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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