ClinVar Miner

Submissions for variant NM_001166686.2(PFKM):c.5A>T (p.His2Leu) (rs11609399)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000509231 SCV000977361 benign not provided 2018-06-14 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001284933 SCV001471032 benign Glycogen storage disease, type VII 2020-08-31 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001284933 SCV001750023 benign Glycogen storage disease, type VII 2021-07-01 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000509231 SCV000607357 not provided not provided no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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