Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Diagnostics Laboratory, |
RCV000760988 | SCV000890901 | pathogenic | Wolfram syndrome 1 | 2018-04-09 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV000760988 | SCV002773832 | pathogenic | 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 rs1560408865 in Wolfram's syndrome yet. |