Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155335 | SCV000205021 | likely benign | not specified | 2012-04-30 | criteria provided, single submitter | clinical testing | Tyr254Tyr in Exon 07 of WFS1: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.1% (5/3738) of Afric an American chromosomes from a broad population by the NHLBI Exome Sequencing Pr oject (http://evs.gs.washington.edu/EVS; dbSNP rs140266808). |
Gene |
RCV001640192 | SCV001861355 | likely benign | not provided | 2021-02-09 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001640192 | SCV002439239 | likely benign | not provided | 2024-12-10 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002509257 | SCV002774902 | benign | 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 rs140266808 in Wolfram's syndrome yet. | |
Fulgent Genetics, |
RCV002498751 | SCV002804398 | likely benign | Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome | 2021-12-23 | criteria provided, single submitter | clinical testing | |
Laboratory of Diagnostic Genome Analysis, |
RCV001640192 | SCV002037035 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001640192 | SCV002038430 | likely benign | not provided | no assertion criteria provided | clinical testing |