ClinVar Miner

Submissions for variant NM_002637.4(PHKA1):c.1309G>A (p.Asp437Asn)

gnomAD frequency: 0.00013  dbSNP: rs782063260
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002107770 SCV002395820 likely benign Glycogen storage disease IXd 2023-06-20 criteria provided, single submitter clinical testing

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