Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000724671 | SCV000232697 | uncertain significance | not provided | 2015-03-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000724671 | SCV000252502 | likely benign | not provided | 2020-12-17 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 32350710) |
Invitae | RCV000724671 | SCV001708984 | likely benign | not provided | 2023-12-07 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV003148665 | SCV003804420 | 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 rs201078003 in Wolfram's syndrome yet. | |
Revvity Omics, |
RCV000724671 | SCV003823769 | uncertain significance | not provided | 2022-02-04 | criteria provided, single submitter | clinical testing |