ClinVar Miner

Submissions for variant NM_000292.3(PHKA2):c.742A>C (p.Arg248=)

gnomAD frequency: 0.00135  dbSNP: rs149219369
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180130 SCV000232512 benign not specified 2015-02-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000180130 SCV000303509 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000180130 SCV000729694 likely benign not specified 2018-02-08 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 RCV000963561 SCV001110726 benign Glycogen storage disease IXa1 2024-01-13 criteria provided, single submitter clinical testing

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