Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000589704 | SCV000515478 | likely benign | not provided | 2020-01-25 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 21537932) |
Ambry Genetics | RCV000568149 | SCV000663753 | likely benign | Hereditary cancer-predisposing syndrome | 2017-04-13 | 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, |
RCV000568149 | SCV000686354 | likely benign | Hereditary cancer-predisposing syndrome | 2017-01-24 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000443166 | SCV000699810 | likely benign | not specified | 2019-08-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001089442 | SCV000770085 | likely benign | Fanconi anemia complementation group O | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000589704 | SCV000807170 | likely benign | not provided | 2017-10-11 | criteria provided, single submitter | clinical testing |