Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000985991 | SCV001134749 | uncertain significance | not provided | 2019-03-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000985991 | SCV001708045 | likely benign | not provided | 2023-11-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002363512 | SCV002660079 | likely benign | Hereditary cancer-predisposing syndrome | 2018-06-12 | 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. |