ClinVar Miner

Submissions for variant NM_000294.3(PHKG2):c.192T>C (p.Pro64=)

gnomAD frequency: 0.00001  dbSNP: rs372292588
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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 RCV003514446 SCV001086523 likely benign Glycogen storage disease IXc 2024-02-04 criteria provided, single submitter clinical testing

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