ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.15G>C (p.Leu5=) (rs886038565)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000245659 SCV000522314 likely benign not specified 2016-02-08 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.
PreventionGenetics RCV000245659 SCV000311167 likely benign not specified criteria provided, single submitter clinical testing

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