ClinVar Miner

Submissions for variant NM_004130.4(GYG1):c.579T>C (p.Ser193=)

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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 RCV005209924 SCV005850184 likely benign Glycogen storage disease XV; Polyglucosan body myopathy type 2 2024-02-14 criteria provided, single submitter clinical testing

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