Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001010646 | SCV001170876 | likely benign | Hereditary cancer-predisposing syndrome | 2019-06-20 | 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 | RCV001428190 | SCV001630883 | likely benign | Fanconi anemia | 2023-09-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001578051 | SCV001805574 | likely benign | not provided | 2021-05-10 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001428190 | SCV002081167 | likely benign | Fanconi anemia | 2021-04-08 | no assertion criteria provided | clinical testing |