ClinVar Miner

Submissions for variant NM_000292.3(PHKA2):c.2077A>G (p.Ile693Val)

gnomAD frequency: 0.00657  dbSNP: rs143732206
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000241709 SCV000303501 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000241709 SCV000520340 benign not specified 2016-07-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001081468 SCV000752207 benign Glycogen storage disease IXa1 2024-01-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001081468 SCV002798072 likely benign Glycogen storage disease IXa1 2022-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000675943 SCV005274396 benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000675943 SCV000801672 likely benign not provided 2017-05-03 no assertion criteria provided clinical testing

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