ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.2286T>G (p.Ile762Met)

gnomAD frequency: 0.00126  dbSNP: rs75685607
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000828467 SCV000970158 likely benign not provided 2020-09-30 criteria provided, single submitter clinical testing
Invitae RCV001423332 SCV001625908 likely benign Glycogen storage disease, type V 2024-01-29 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002298792 SCV002598816 uncertain significance not specified 2022-09-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001423332 SCV002092308 likely benign Glycogen storage disease, type V 2019-11-11 no assertion criteria provided clinical testing

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