Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001010633 | SCV001170860 | likely benign | Hereditary cancer-predisposing syndrome | 2018-06-18 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Invitae | RCV001432226 | SCV001634990 | likely benign | Birt-Hogg-Dube syndrome | 2023-09-23 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV002479206 | SCV002774169 | likely benign | not provided | 2021-08-25 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV003321772 | SCV004026703 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing |