Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000872226 | SCV000535359 | likely benign | not provided | 2021-05-08 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000430540 | SCV000712170 | benign | not specified | 2016-05-23 | criteria provided, single submitter | clinical testing | p.Ala114Ala in exon 4 of WFS1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, it is not located wit hin the splice consensus sequence, and it has been identified in 0.5% (34/6800) of Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs201151892). |
Labcorp Genetics |
RCV000872226 | SCV001014012 | benign | not provided | 2025-01-27 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000430540 | SCV002064716 | likely benign | not specified | 2019-07-10 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002509069 | SCV002769839 | 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 rs201151892 in Wolfram's syndrome yet. | |
Fulgent Genetics, |
RCV002502588 | SCV002809031 | likely benign | Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome | 2021-12-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004539910 | SCV004770585 | likely benign | WFS1-related disorder | 2020-02-05 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |