ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.1413-19G>A

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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 RCV002970600 SCV003280111 benign Glycogen storage disease, type VII 2024-02-23 criteria provided, single submitter clinical testing

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