Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000635496 | SCV000756910 | likely benign | Juvenile polyposis syndrome | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002448965 | SCV001189765 | likely benign | Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome | 2018-01-16 | 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, |
RCV001027241 | SCV001360146 | likely benign | Hereditary cancer-predisposing syndrome | 2018-12-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001712772 | SCV001943839 | likely benign | not provided | 2018-08-17 | criteria provided, single submitter | clinical testing |