ClinVar Miner

Submissions for variant NM_004130.4(GYG1):c.501G>A (p.Leu167=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003040017 SCV003341646 likely benign Glycogen storage disease XV; Polyglucosan body myopathy type 2 2022-04-12 criteria provided, single submitter clinical testing

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