ClinVar Miner

Submissions for variant NM_002637.4(PHKA1):c.1401G>A (p.Glu467=)

dbSNP: rs782491320
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002065711 SCV002410474 benign Glycogen storage disease IXd 2024-01-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003950625 SCV004761046 benign PHKA1-related disorder 2023-09-22 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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