Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001439553 | SCV001642445 | likely benign | Neurofibromatosis, type 1 | 2020-11-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002391016 | SCV002668638 | likely benign | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2021-04-22 | 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. |