ClinVar Miner

Submissions for variant NM_002637.4(PHKA1):c.2625G>A (p.Ala875=)

gnomAD frequency: 0.00001  dbSNP: rs781930090
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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 RCV002142072 SCV002419430 likely benign Glycogen storage disease IXd 2024-12-23 criteria provided, single submitter clinical testing

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