ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.2093-14A>G

gnomAD frequency: 0.16418  dbSNP: rs11168427
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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 RCV000243990 SCV000303487 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000267403 SCV000379106 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 RCV000243990 SCV000517628 benign not specified 2015-12-02 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 RCV000267403 SCV001470792 benign Glycogen storage disease, type VII 2023-11-30 criteria provided, single submitter clinical testing
Invitae RCV000267403 SCV001726951 benign Glycogen storage disease, type VII 2024-02-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV000267403 SCV001750036 benign Glycogen storage disease, type VII 2021-07-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675442 SCV000801122 benign not provided 2015-12-16 no assertion criteria provided clinical testing

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