Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000632661 | SCV000753847 | likely benign | Neurofibromatosis, type 2 | 2021-02-08 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002257875 | SCV002528167 | likely benign | Hereditary cancer-predisposing syndrome | 2021-06-20 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV002257875 | SCV002651260 | likely benign | Hereditary cancer-predisposing syndrome | 2021-02-14 | 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. |