ClinVar Miner

Submissions for variant NM_004130.4(GYG1):c.609G>A (p.Val203=)

gnomAD frequency: 0.00188  dbSNP: rs75445811
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704276 SCV000527185 benign not provided 2020-10-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000967717 SCV001115132 benign Glycogen storage disease XV; Polyglucosan body myopathy type 2 2025-02-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000967717 SCV002804453 likely benign Glycogen storage disease XV; Polyglucosan body myopathy type 2 2022-01-21 criteria provided, single submitter clinical testing

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