ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.1023C>T (p.Asn341=)

dbSNP: rs2135957291
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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 RCV002185764 SCV002489843 likely benign Glycogen storage disease, type VII 2020-12-17 criteria provided, single submitter clinical testing

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