Total submissions: 14
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000146101 | SCV000193318 | benign | not specified | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000146101 | SCV000304664 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
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 Laboratory Services, |
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 Laboratory Services, |
RCV000309176 | SCV000369154 | benign | Diabetes mellitus, transient neonatal, 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 | RCV000576636 | SCV000677328 | benign | Hyperinsulinemic hypoglycemia, familial, 2 | 2017-05-19 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000576636 | SCV001652765 | benign | Hyperinsulinemic hypoglycemia, familial, 2 | 2021-05-18 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001520318 | SCV001729385 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
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) |
ARUP Laboratories, |
RCV001520318 | SCV002049156 | benign | not provided | 2023-11-24 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002226685 | SCV002505461 | uncertain significance | Hyperinsulinemia | criteria provided, single submitter | research | Mutations in KCNJ11 gene can cause decreased production and secretion of insulin. This can lead to MODY which may be responsive to oral sulfonylureas. However, significance of rs8175351 is uncertain in Hyperinsulinemic Hypoglycemia of Infancy. | |
Natera, |
RCV001275129 | SCV001459960 | benign | Permanent neonatal diabetes mellitus | 2020-09-16 | no assertion criteria provided | clinical testing | |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000146101 | SCV001979508 | benign | not specified | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV000146101 | SCV001979874 | benign | not specified | no assertion criteria provided | clinical testing |