ClinVar Miner

Submissions for variant NM_000294.3(PHKG2):c.993G>A (p.Leu331=)

gnomAD frequency: 0.00001  dbSNP: rs1156391435
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003628419 SCV004505795 likely benign Glycogen storage disease IXc 2023-11-30 criteria provided, single submitter clinical testing

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