ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.1413-5A>T

dbSNP: rs2136006212
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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 RCV002212507 SCV002367154 likely benign Glycogen storage disease, type VII 2021-08-08 criteria provided, single submitter clinical testing

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