ClinVar Miner

Submissions for variant NM_000525.3(KCNJ11):c.808C>G (p.Leu270Val) (rs1800467)

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Total submissions: 18
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146119 SCV000193336 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000146119 SCV000304669 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000146119 SCV000340114 benign not specified 2016-03-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000372639 SCV000369164 benign Maturity-onset diabetes of the young, type 13 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.
Illumina Clinical Services Laboratory,Illumina RCV000576834 SCV000369165 likely benign Hyperinsulinemic hypoglycemia, familial, 2 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000323784 SCV000369166 benign Transient neonatal diabetes mellitus 3 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.
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000445429 SCV000537077 benign Monogenic diabetes 2019-02-22 criteria provided, single submitter research ACMG criteria: BA1 (4% overall MAF in gnomAD, 11% MAF in EF, 6.8% in AJ), BS2 (936 cases and 916 controls in T2DM): benign (Revel score 0.344 + PP3 (4 predictors) + BP4 (5 predictors): conflicing evidence, not using; no longer using BP6)
Athena Diagnostics Inc RCV000576834 SCV000677332 benign Hyperinsulinemic hypoglycemia, familial, 2 2017-05-19 criteria provided, single submitter clinical testing
Invitae RCV001516639 SCV001724944 benign not provided 2020-12-05 criteria provided, single submitter clinical testing
Pars Genome Lab RCV000323784 SCV001749033 benign Transient neonatal diabetes mellitus 3 2021-07-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001533236 SCV001749034 benign Permanent neonatal diabetes mellitus 2 2021-07-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV000576834 SCV001749035 benign Hyperinsulinemic hypoglycemia, familial, 2 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001516639 SCV001872360 benign not provided 2018-09-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25972930)
Natera, Inc. RCV001275132 SCV001459963 benign Permanent neonatal diabetes mellitus 2020-09-16 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000146119 SCV001744803 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000146119 SCV001797755 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001516639 SCV001927431 likely benign not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000146119 SCV001955891 benign not specified no assertion criteria provided clinical testing

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