Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000877964 | SCV001020787 | likely benign | Neurofibromatosis, type 1 | 2023-06-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002319598 | SCV001185926 | likely benign | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2018-03-07 | 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. |
Genetic Services Laboratory, |
RCV001817045 | SCV002067961 | uncertain significance | not specified | 2020-03-31 | criteria provided, single submitter | clinical testing |