ClinVar Miner

Submissions for variant NM_000525.3(KCNJ11):c.1143G>A (p.Lys381=) (rs8175351)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146101 SCV000193318 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000146101 SCV000304664 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000339595 SCV000369152 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 RCV000576636 SCV000369153 uncertain significance 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, 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 RCV000309176 SCV000369154 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.
Athena Diagnostics Inc RCV000576636 SCV000677328 benign Hyperinsulinemic hypoglycemia, familial, 2 2017-05-19 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000576636 SCV001652765 benign Hyperinsulinemic hypoglycemia, familial, 2 2021-05-18 criteria provided, single submitter clinical testing
Invitae RCV001520318 SCV001729385 benign not provided 2020-12-08 criteria provided, single submitter clinical testing
GeneDx RCV001520318 SCV001864872 benign not provided 2021-02-08 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16429405, 17316607, 15504982)
Natera, Inc. RCV001275129 SCV001459960 benign Permanent neonatal diabetes mellitus 2020-09-16 no assertion criteria provided clinical testing

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