ClinVar Miner

Submissions for variant NM_000294.3(PHKG2):c.256G>A (p.Gly86Ser)

gnomAD frequency: 0.00332  dbSNP: rs143983247
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000962410 SCV001109489 benign Glycogen storage disease IXc 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002511003 SCV002822301 benign not provided 2023-09-01 criteria provided, single submitter clinical testing PHKG2: BS1, BS2
Revvity Omics, Revvity RCV000962410 SCV003812865 uncertain significance Glycogen storage disease IXc 2019-06-04 criteria provided, single submitter clinical testing

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