Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000602954 | SCV000712405 | likely benign | not specified | 2016-08-04 | criteria provided, single submitter | clinical testing | p.Asp272Asp in exon 7 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 been identified in 4/16508 South Asia n chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstit ute.org; dbSNP rs762774307). |
Labcorp Genetics |
RCV002062136 | SCV002426141 | likely benign | not provided | 2025-01-15 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002509464 | SCV002774922 | 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 rs762774307 in Wolfram's syndrome yet. | |
Fulgent Genetics, |
RCV002483676 | SCV002796481 | likely benign | Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome | 2022-03-05 | criteria provided, single submitter | clinical testing |