Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000758721 | SCV000887506 | uncertain significance | not provided | 2018-08-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003768277 | SCV002365796 | likely benign | Familial adenomatous polyposis 1 | 2023-08-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002388379 | SCV002699556 | likely benign | Hereditary cancer-predisposing syndrome | 2020-02-06 | 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. |