ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.1746C>T (p.Thr582=)

dbSNP: rs2136020208
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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 RCV002106867 SCV002324851 likely benign Glycogen storage disease, type VII 2022-08-22 criteria provided, single submitter clinical testing

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