Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000564689 | SCV000673330 | likely benign | Hereditary cancer-predisposing syndrome | 2017-08-16 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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 | RCV001471901 | SCV001676022 | likely benign | Fanconi anemia | 2023-12-27 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001273976 | SCV001457637 | likely benign | Fanconi anemia complementation group C | 2020-09-16 | no assertion criteria provided | clinical testing |