Total submissions: 18
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000146116 | SCV000193333 | benign | not specified | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000146116 | SCV000224239 | benign | not specified | 2014-11-26 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000294608 | SCV000369188 | likely benign | Hyperinsulinism, Dominant/Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000281825 | SCV000369189 | likely benign | Transient Neonatal Diabetes, Dominant | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000385348 | SCV000369190 | likely benign | Maturity onset diabetes mellitus in young | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000576501 | SCV000483234 | likely benign | Hyperinsulinemic hypoglycemia, familial, 2 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Illumina Laboratory Services, |
RCV001093985 | SCV000483235 | likely benign | Diabetes mellitus, transient neonatal, 3 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Illumina Laboratory Services, |
RCV000020356 | SCV000483236 | benign | Permanent neonatal diabetes mellitus | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000576501 | SCV000677330 | benign | Hyperinsulinemic hypoglycemia, familial, 2 | 2017-04-28 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001105584 | SCV001262568 | likely benign | Maturity-onset diabetes of the young type 13 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Labcorp Genetics |
RCV001512207 | SCV001719579 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001512207 | SCV001852181 | benign | not provided | 2018-09-04 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 28252621, 15111507, 25625107, 25165692, 24332549, 31118516, 29632382, 28082085, 25725792, 27535653, 25955821, 24996284, 26551672, 27398621, 26315042, 9867219, 24741969, 16733889, 24710510, 22163043, 22209866, 24241377, 22264780, 23054005, 23412854, 19498446, 17823772, 19578796, 19685080, 19214942, 22082043, 19491206, 15855351, 12196481, 20424228, 19587354, 17257281, 16455067, 19233137, 22704848, 18758683) |
Clinical Genomics, |
RCV002226643 | SCV002505643 | benign | Type 2 diabetes mellitus | criteria provided, single submitter | research | Mutations in KCNJ11 gene can cause decreased production and secretion of insulin. This can lead to MODY which is responsive to oral sulfonylureas. KCNJ11 rs5219- E23K is associated with Type II Diabetes Mellitus. It doesnt cause any sensitivity towards mild hypoglycemia, an adverse effect of Sulfonylurea treatment. | |
Breakthrough Genomics, |
RCV001512207 | SCV005221359 | likely benign | not provided | criteria provided, single submitter | not provided | ||
OMIM | RCV000009214 | SCV000029432 | benign | Diabetes mellitus type 2, susceptibility to | 2009-12-01 | no assertion criteria provided | literature only | |
Gene |
RCV000020356 | SCV000040740 | not provided | Permanent neonatal diabetes mellitus | no assertion provided | literature only | ||
Prevention |
RCV004734506 | SCV000304667 | benign | KCNJ11-related disorder | 2024-04-15 | no assertion criteria provided | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Natera, |
RCV000020356 | SCV001459969 | benign | Permanent neonatal diabetes mellitus | 2020-09-16 | no assertion criteria provided | clinical testing |