ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.150T>C (p.Phe50=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002843084 SCV003211898 likely benign Glycogen storage disease, type VII 2022-06-30 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002843084 SCV003800534 likely benign Glycogen storage disease, type VII 2022-09-15 criteria provided, single submitter clinical testing

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