Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000563370 | SCV000667127 | likely benign | Hereditary cancer-predisposing syndrome | 2016-10-20 | 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 | RCV000940818 | SCV001086686 | likely benign | Fanconi anemia complementation group O | 2024-01-05 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000563370 | SCV002051837 | likely benign | Hereditary cancer-predisposing syndrome | 2018-12-14 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003478240 | SCV004220145 | likely benign | not provided | 2022-09-13 | criteria provided, single submitter | clinical testing |