ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.1926T>C (p.Arg642=)

gnomAD frequency: 0.00004  dbSNP: rs779048512
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000938663 SCV001084481 likely benign Glycogen storage disease, type V 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV000938663 SCV001461273 likely benign Glycogen storage disease, type V 2020-09-16 no assertion criteria provided clinical testing

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