Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000539395 | SCV000632784 | likely benign | Juvenile polyposis syndrome | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000590505 | SCV000698568 | likely benign | not specified | 2019-08-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002319037 | SCV001183026 | likely benign | Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome | 2018-06-20 | 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, |
RCV001021412 | SCV001355789 | likely benign | Hereditary cancer-predisposing syndrome | 2018-10-30 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001800741 | SCV002047025 | likely benign | not provided | 2021-04-30 | criteria provided, single submitter | clinical testing |