Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002231366 | SCV000632801 | likely benign | Juvenile polyposis syndrome | 2023-07-28 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001800742 | SCV002046630 | likely benign | not provided | 2021-02-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002367808 | SCV002665467 | likely benign | Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome | 2021-01-25 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003330763 | SCV004038963 | likely benign | not specified | 2023-08-10 | criteria provided, single submitter | clinical testing |