Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001718826 | SCV000512972 | likely benign | not provided | 2018-06-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000631036 | SCV000752020 | likely benign | Fanconi anemia | 2023-06-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002392952 | SCV002702634 | likely benign | Hereditary cancer-predisposing syndrome | 2020-08-13 | 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. |