ClinVar Miner

Submissions for variant NM_000294.3(PHKG2):c.469G>A (p.Glu157Lys)

gnomAD frequency: 0.00001  dbSNP: rs752961445
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000761513 SCV001225250 uncertain significance Glycogen storage disease IXc 2021-09-02 criteria provided, single submitter clinical testing
Al Jalila Children's Genomics Center,Al Jalila Childrens Speciality Hospital RCV000761513 SCV001984633 uncertain significance Glycogen storage disease IXc 2020-09-21 criteria provided, single submitter clinical testing
Department of Genetics,Sultan Qaboos University Hospital, Oman RCV000761513 SCV000891642 likely pathogenic Glycogen storage disease IXc 2017-12-30 no assertion criteria provided curation

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