Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002319196 | SCV001174657 | likely benign | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2018-02-14 | 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 | RCV001393223 | SCV001594883 | likely benign | Neurofibromatosis, type 1 | 2023-10-17 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001393223 | SCV002561521 | likely benign | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing |