Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clinical Genomics, |
RCV000004774 | SCV002773861 | 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 rs104893880 in Wolfram's syndrome yet. | |
OMIM | RCV000004774 | SCV000024950 | pathogenic | Wolfram syndrome 1 | 1998-12-01 | no assertion criteria provided | literature only |