Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002319604 | SCV001177722 | likely benign | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2019-03-12 | 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 | RCV001419857 | SCV001622123 | likely benign | Neurofibromatosis, type 1 | 2018-08-13 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001419857 | SCV002560623 | likely benign | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing |