ClinVar Miner

Submissions for variant NM_000293.3(PHKB):c.871-20C>G

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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 RCV005158216 SCV005785479 likely benign Glycogen storage disease IXb 2024-03-03 criteria provided, single submitter clinical testing

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