ClinVar Miner

Submissions for variant NM_000292.3(PHKA2):c.3244G>A (p.Val1082Met)

gnomAD frequency: 0.00034  dbSNP: rs142123423
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591627 SCV000706125 likely benign not specified 2017-03-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002532515 SCV003271994 likely benign Glycogen storage disease IXa1 2023-08-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003905538 SCV004723650 likely benign PHKA2-related disorder 2023-01-10 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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