Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000249260 | SCV000316743 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV001469660 | SCV001673741 | likely benign | Neurofibromatosis, type 2 | 2022-08-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002392778 | SCV002697008 | likely benign | Hereditary cancer-predisposing syndrome | 2019-10-31 | 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. |