Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001284243 | SCV000524663 | likely benign | not provided | 2019-09-12 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000583969 | SCV000687060 | likely benign | Hereditary cancer-predisposing syndrome | 2017-08-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003651820 | SCV001131169 | likely benign | Familial adenomatous polyposis 1 | 2023-11-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000583969 | SCV001186891 | likely benign | Hereditary cancer-predisposing syndrome | 2019-08-08 | 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. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001284243 | SCV001469921 | likely benign | not provided | 2019-10-29 | criteria provided, single submitter | clinical testing |