Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001086440 | SCV000632808 | likely benign | Juvenile polyposis syndrome | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002311856 | SCV000671969 | likely benign | Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome | 2015-02-04 | 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. |
Color Diagnostics, |
RCV000572232 | SCV000691439 | likely benign | Hereditary cancer-predisposing syndrome | 2017-05-22 | criteria provided, single submitter | clinical testing | |
Preventiongenetics, |
RCV000679592 | SCV000806705 | likely benign | not provided | 2017-11-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000679592 | SCV001855310 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV002476125 | SCV002046586 | benign | not specified | 2021-01-15 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000572232 | SCV002538352 | likely benign | Hereditary cancer-predisposing syndrome | 2020-11-09 | criteria provided, single submitter | curation |