ClinVar Miner

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

dbSNP: rs886038565
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245659 SCV000311167 likely benign not specified criteria provided, single submitter clinical testing
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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001436520 SCV001639362 likely benign Glycogen storage disease, type V 2022-04-12 criteria provided, single submitter clinical testing

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