ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.2334T>G (p.Ala778=) (rs8716)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000248761 SCV000604623 benign not specified 2017-04-13 criteria provided, single submitter clinical testing
GeneDx RCV000248761 SCV000517629 benign not specified 2015-12-04 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.
GenomeConnect, ClinGen RCV000509427 SCV000607358 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.
Illumina Clinical Services Laboratory,Illumina RCV000266125 SCV000379109 benign Glycogen storage disease, type VII 2016-06-14 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000509427 SCV000801123 benign not provided 2015-10-21 no assertion criteria provided clinical testing
PreventionGenetics RCV000248761 SCV000303488 benign not specified criteria provided, single submitter clinical testing

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