Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155343 | SCV000205029 | likely benign | not specified | 2017-07-20 | criteria provided, single submitter | clinical testing | p.Ser544Ser in Exon 08 of WFS1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has also been identified in 35/126666 of European chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.b roadinstitute.org; dbSNP rs140115060). |
Ce |
RCV000487945 | SCV000575395 | likely benign | not provided | 2022-12-01 | criteria provided, single submitter | clinical testing | WFS1: BP4, BP7 |
Gene |
RCV000487945 | SCV000970693 | likely benign | not provided | 2021-05-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000487945 | SCV001047204 | likely benign | not provided | 2023-11-28 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV003126554 | SCV003801386 | 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 rs140115060 in Wolfram's syndrome yet. | |
Prevention |
RCV003975215 | SCV004787449 | likely benign | WFS1-related condition | 2019-03-13 | criteria provided, single submitter | 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). |
Laboratory of Diagnostic Genome Analysis, |
RCV000487945 | SCV002035836 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000487945 | SCV002037638 | likely benign | not provided | no assertion criteria provided | clinical testing |