ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.1020C>T (p.Asp340=)

dbSNP: rs1376160425
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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 RCV001458378 SCV001662200 likely benign Glycogen storage disease, type V 2024-07-29 criteria provided, single submitter clinical testing

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