Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156803 | SCV000206524 | likely benign | not specified | 2014-10-01 | criteria provided, single submitter | clinical testing | p.Ala275Ala in exon 7 of WSF1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. |
Gene |
RCV000156803 | SCV000252479 | benign | not specified | 2014-12-10 | 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. |
Labcorp Genetics |
RCV000904623 | SCV001049147 | likely benign | not provided | 2025-01-20 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002509258 | SCV002774924 | 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 rs566634291 in Wolfram's syndrome yet. | |
Fulgent Genetics, |
RCV002484957 | SCV002799928 | likely benign | Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome | 2021-09-16 | criteria provided, single submitter | clinical testing | |
Laboratory of Diagnostic Genome Analysis, |
RCV000904623 | SCV002035707 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000904623 | SCV002038043 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Prevention |
RCV004544458 | SCV004783007 | likely benign | WFS1-related disorder | 2019-09-19 | 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). |