ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.1005C>T (p.Ala335=)

gnomAD frequency: 0.00001  dbSNP: rs773605626
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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 RCV002159026 SCV002475132 likely benign Glycogen storage disease, type V 2022-02-24 criteria provided, single submitter clinical testing

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