Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002354967 | SCV001187708 | likely benign | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2019-12-11 | 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 | RCV002550916 | SCV003337310 | likely benign | Neurofibromatosis, type 1 | 2023-09-08 | criteria provided, single submitter | clinical testing |