Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute Of Human Genetics Munich, |
RCV000995912 | SCV001150309 | pathogenic | Wolfram syndrome 1 | 2019-06-05 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV000995912 | SCV003802940 | likely 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 rs1578612324 in Wolfram's syndrome yet. |