Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001698351 | SCV000533609 | likely benign | not provided | 2020-02-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000541154 | SCV000646486 | likely benign | Colorectal cancer, susceptibility to, 10 | 2023-12-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000573619 | SCV000674264 | likely benign | Hereditary cancer-predisposing syndrome | 2015-11-13 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000418300 | SCV001748704 | likely benign | not specified | 2021-06-27 | criteria provided, single submitter | clinical testing |