ClinVar Miner

Submissions for variant NM_000292.3(PHKA2):c.2532G>A (p.Leu844=)

gnomAD frequency: 0.00939  dbSNP: rs61729452
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243860 SCV000303504 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000243860 SCV000518779 benign not specified 2016-10-18 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 RCV000538337 SCV000626792 benign Glycogen storage disease IXa1 2024-01-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004713438 SCV005274392 benign not provided criteria provided, single submitter not provided

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