ClinVar Miner

Submissions for variant NM_000294.3(PHKG2):c.648-7T>C

dbSNP: rs2543469753
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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 RCV003626953 SCV004377696 likely benign Glycogen storage disease IXc 2023-12-11 criteria provided, single submitter clinical testing

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