ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.1353C>T (p.His451=)

gnomAD frequency: 0.00004  dbSNP: rs377599118
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000941535 SCV001087424 likely benign Glycogen storage disease, type V 2023-10-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000941535 SCV004565316 likely benign Glycogen storage disease, type V 2023-08-08 criteria provided, single submitter clinical testing

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