Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001200157 | SCV001371044 | likely benign | not provided | 2020-05-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002447042 | SCV002736513 | likely benign | Hereditary cancer-predisposing syndrome | 2017-03-31 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003323812 | SCV004030109 | likely benign | not specified | 2023-07-10 | criteria provided, single submitter | clinical testing |