ClinVar Miner

Submissions for variant NM_000294.3(PHKG2):c.1170G>A (p.Glu390=)

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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 RCV003626348 SCV004468155 likely benign Glycogen storage disease IXc 2025-02-03 criteria provided, single submitter clinical testing

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