ClinVar Miner

Submissions for variant NM_000292.3(PHKA2):c.1042-17A>G

gnomAD frequency: 0.00093  dbSNP: rs368817576
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000612916 SCV000722554 likely benign not specified 2017-08-30 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 RCV002065263 SCV002445450 benign Glycogen storage disease IXa1 2021-08-09 criteria provided, single submitter clinical testing

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