Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000233734 | SCV000285098 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000780631 | SCV000918062 | likely benign | not specified | 2019-09-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001546664 | SCV001766219 | likely benign | not provided | 2020-07-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002417998 | SCV002722959 | likely benign | Hereditary cancer-predisposing syndrome | 2016-03-10 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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, |
RCV002417998 | SCV004359570 | likely benign | Hereditary cancer-predisposing syndrome | 2021-12-13 | criteria provided, single submitter | clinical testing |