ClinVar Miner

Submissions for variant NM_000290.4(PGAM2):c.264T>C (p.Asn88=)

gnomAD frequency: 0.00007  dbSNP: rs146272559
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001722619 SCV000716530 likely benign not provided 2019-03-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002529446 SCV003249681 likely benign Glycogen storage disease type X 2024-01-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001722619 SCV004156817 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing PGAM2: BP4, BP7

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