Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000495257 | SCV000578238 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2017-06-29 | reviewed by expert panel | curation | Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/). |
Ambry Genetics | RCV001013335 | SCV001173911 | likely benign | Hereditary cancer-predisposing syndrome | 2019-08-18 | 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, |
RCV001013335 | SCV001358275 | likely benign | Hereditary cancer-predisposing syndrome | 2018-11-26 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001193690 | SCV001362702 | likely benign | not specified | 2019-08-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001435028 | SCV001637846 | likely benign | Hereditary breast ovarian cancer syndrome | 2021-03-29 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV001013335 | SCV002538054 | likely benign | Hereditary cancer-predisposing syndrome | 2021-07-21 | criteria provided, single submitter | curation |