ClinVar Miner

Submissions for variant NM_002637.4(PHKA1):c.2405G>A (p.Arg802Gln)

gnomAD frequency: 0.00011  dbSNP: rs782159405
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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 RCV002514084 SCV003260086 likely benign Glycogen storage disease IXd 2024-07-27 criteria provided, single submitter clinical testing
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics RCV000190543 SCV000221325 uncertain significance Spinocerebellar ataxia, X-linked no assertion criteria provided case-control

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