ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.246G>A (p.Thr82=)

gnomAD frequency: 0.06196  dbSNP: rs2228501
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253516 SCV000303489 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000283573 SCV000379092 benign Glycogen storage disease, type VII 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000253516 SCV000517815 benign not specified 2015-12-21 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 RCV000283573 SCV000604624 benign Glycogen storage disease, type VII 2023-11-27 criteria provided, single submitter clinical testing
Invitae RCV000283573 SCV001730555 benign Glycogen storage disease, type VII 2024-02-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675433 SCV000801113 benign not provided 2015-10-26 no assertion criteria provided clinical testing
Natera, Inc. RCV000283573 SCV001457677 benign Glycogen storage disease, type VII 2020-09-16 no assertion criteria provided clinical testing

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