ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.657A>G (p.Thr219=)

gnomAD frequency: 0.00001  dbSNP: rs754590975
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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 RCV001473591 SCV001677745 likely benign Glycogen storage disease, type V 2020-08-27 criteria provided, single submitter clinical testing

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