Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002319166 | SCV001172803 | likely benign | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2019-07-26 | 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 | RCV002068856 | SCV002466073 | likely benign | Neurofibromatosis, type 1 | 2021-04-23 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002068856 | SCV002560461 | likely benign | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing |