ClinVar Miner

Submissions for variant NM_002637.4(PHKA1):c.2918-4A>G

gnomAD frequency: 0.00056  dbSNP: rs184136158
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001718920 SCV000721381 likely benign not provided 2018-04-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001718920 SCV002822033 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing PHKA1: BP4
Labcorp Genetics (formerly Invitae), Labcorp RCV002529637 SCV003248940 benign Glycogen storage disease IXd 2023-12-25 criteria provided, single submitter clinical testing

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