Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000154149 | SCV000203815 | benign | not specified | 2014-01-31 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000312681 | SCV000450592 | benign | WFS1-Related Spectrum Disorders | 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, |
RCV000355811 | SCV000450593 | benign | Autosomal dominant nonsyndromic hearing loss 6 | 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. |
Gene |
RCV000154149 | SCV000515269 | benign | not specified | 2015-06-10 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Laboratory for Molecular Medicine, |
RCV000154149 | SCV000711247 | benign | not specified | 2012-04-30 | criteria provided, single submitter | clinical testing | Met306Thr in Exon 08 of WFS1: This variant is not expected to have clinical sign ificance because it has been identified in 1.2% (45/3738) of African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS; dbSNP rs146114074). |
Labcorp Genetics |
RCV000870981 | SCV001012565 | benign | not provided | 2025-02-03 | criteria provided, single submitter | clinical testing | |
Personalized Diabetes Medicine Program, |
RCV001174388 | SCV001337526 | benign | Monogenic diabetes | 2018-05-18 | criteria provided, single submitter | research | ACMG criteria: BP4 (8 predictors, Revel score 0.141; 2 predictors for PP3, not using), BS1 (1.4% in 1000G African, 1.3% in gnomAD African), BS2 (37 cases and 31 controls in type2diabetesgenetics.org; 3 homozygotes in gnomAD African)= benign |
ARUP Laboratories, |
RCV000870981 | SCV001473982 | benign | not provided | 2023-09-15 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002464008 | SCV002605282 | uncertain significance | Wolfram syndrome 1 | criteria provided, single submitter | research | Potent mutations in WFS1 gene are associated with Wolfram's syndrome, an autosomal recessive condition, which cause diabetes mellitus, diabetes insipidus, deafness and optic atrophy.However no sufficient evidence is found to ascertain the role of this particular variant rs146114074 yet. | |
Breakthrough Genomics, |
RCV000870981 | SCV005298376 | benign | not provided | criteria provided, single submitter | not provided | ||
Clinical Genetics, |
RCV000154149 | SCV002034426 | benign | not specified | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV000870981 | SCV002036527 | likely benign | not provided | no assertion criteria provided | clinical testing |