ClinVar Miner

Submissions for variant NM_000292.3(PHKA2):c.1793+18T>A

gnomAD frequency: 0.00007  dbSNP: rs567115484
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000607736 SCV000722278 likely benign not specified 2017-09-07 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 RCV002065247 SCV002398324 benign Glycogen storage disease IXa1 2023-08-17 criteria provided, single submitter clinical testing

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