ClinVar Miner

Submissions for variant NM_000294.3(PHKG2):c.272-12C>G

gnomAD frequency: 0.00001  dbSNP: rs780663023
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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 RCV003514122 SCV004280114 likely benign Glycogen storage disease IXc 2024-01-21 criteria provided, single submitter clinical testing

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