ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.2087G>A (p.Arg696His) (rs41291971)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000675441 SCV000884300 uncertain significance not provided 2017-06-27 criteria provided, single submitter clinical testing
Counsyl RCV000631186 SCV000790129 likely benign Glycogen storage disease, type VII 2017-03-06 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000251357 SCV000858857 likely benign not specified 2018-01-03 criteria provided, single submitter clinical testing
GeneDx RCV000251357 SCV000518805 likely benign not specified 2017-11-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000631186 SCV000752199 benign Glycogen storage disease, type VII 2017-09-01 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675441 SCV000801121 likely benign not provided 2018-01-09 no assertion criteria provided clinical testing
PreventionGenetics RCV000251357 SCV000303486 likely benign not specified criteria provided, single submitter clinical testing

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