Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000825265 | SCV000966555 | likely benign | not specified | 2017-08-23 | criteria provided, single submitter | clinical testing | p.Val412Val in exon 8 of WFS1: 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. It has been identified in 0.02% (3/16512) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; dbSNP rs753290200). |
Labcorp Genetics |
RCV002067410 | SCV002491164 | likely benign | not provided | 2022-11-04 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002509558 | SCV002817349 | 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 rs753290200 in Wolfram's syndrome yet. |