Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000729050 | SCV000856684 | uncertain significance | not provided | 2017-09-18 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000729050 | SCV001473334 | likely benign | not provided | 2019-09-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000729050 | SCV001783422 | uncertain significance | not provided | 2021-08-19 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function |
Invitae | RCV000729050 | SCV002353718 | likely benign | not provided | 2023-12-31 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002509089 | SCV002769815 | likely 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 rs111773340 in Wolfram's syndrome yet. |