ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.1269G>A (p.Leu423=) (rs376049846)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000247336 SCV000314299 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000247336 SCV000512858 benign not specified 2016-05-31 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.
Invitae RCV000463565 SCV000561701 likely benign not provided 2019-01-22 criteria provided, single submitter clinical testing

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