ClinVar Miner

Submissions for variant NM_000292.3(PHKA2):c.37G>A (p.Gly13Arg)

gnomAD frequency: 0.00001  dbSNP: rs202065000
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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 RCV002068678 SCV002395745 likely benign Glycogen storage disease IXa1 2024-03-30 criteria provided, single submitter clinical testing

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