ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.1182G>A (p.Pro394=)

dbSNP: rs372189049
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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 RCV000942090 SCV001088004 likely benign Glycogen storage disease, type VII 2023-09-27 criteria provided, single submitter clinical testing

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