ClinVar Miner

Submissions for variant NM_004130.4(GYG1):c.882A>G (p.Glu294=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003437959 SCV004148529 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing GYG1: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV005220705 SCV005864911 likely benign Glycogen storage disease XV; Polyglucosan body myopathy type 2 2024-03-18 criteria provided, single submitter clinical testing

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