ClinVar Miner

Submissions for variant NM_000525.3(KCNJ11):c.801C>G (p.Leu267=) (rs5216)

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Total submissions: 17
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146118 SCV000193335 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000146118 SCV000304668 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000146118 SCV000341479 benign not specified 2016-05-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000381795 SCV000369170 benign Transient neonatal diabetes mellitus 3 2018-01-12 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 RCV000576711 SCV000369171 uncertain significance Hyperinsulinemic hypoglycemia, familial, 2 2018-01-12 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000351492 SCV000369172 benign Maturity-onset diabetes of the young, type 13 2018-01-12 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.
Athena Diagnostics Inc RCV000576711 SCV000677331 benign Hyperinsulinemic hypoglycemia, familial, 2 2017-05-19 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000576711 SCV001653344 likely benign Hyperinsulinemic hypoglycemia, familial, 2 2021-05-18 criteria provided, single submitter clinical testing
Invitae RCV001520976 SCV001730215 benign not provided 2020-12-05 criteria provided, single submitter clinical testing
Pars Genome Lab RCV000381795 SCV001749036 likely benign Transient neonatal diabetes mellitus 3 2021-07-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001533237 SCV001749037 likely benign Permanent neonatal diabetes mellitus 2 2021-07-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV000576711 SCV001749038 likely benign Hyperinsulinemic hypoglycemia, familial, 2 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001520976 SCV001861330 benign not provided 2020-11-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21765448, 16670688, 14871556, 25972930, 22512215)
Natera, Inc. RCV001275133 SCV001459964 benign Permanent neonatal diabetes mellitus 2020-09-16 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001520976 SCV001799163 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001520976 SCV001926866 likely benign not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000146118 SCV001956344 benign not specified no assertion criteria provided clinical testing

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