Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000439042 | SCV000527208 | likely benign | not specified | 2016-05-31 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Labcorp Genetics |
RCV002062781 | SCV002341516 | likely benign | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002488931 | SCV002799143 | likely benign | Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome | 2021-09-22 | criteria provided, single submitter | clinical testing |