ClinVar Miner

Submissions for variant NM_000292.3(PHKA2):c.849T>A (p.Ile283=)

gnomAD frequency: 0.01392  dbSNP: rs61733284
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244759 SCV000303510 benign not specified 2016-02-05 criteria provided, single submitter clinical testing
GeneDx RCV000244759 SCV000526905 benign not specified 2016-06-09 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 RCV000974777 SCV001122640 benign Glycogen storage disease IXa1 2024-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003114418 SCV003799207 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV003114418 SCV005274405 benign not provided criteria provided, single submitter not provided

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