Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000562929 | SCV000664860 | likely benign | Hereditary cancer-predisposing syndrome | 2017-09-11 | 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, |
RCV000562929 | SCV000690479 | likely benign | Hereditary cancer-predisposing syndrome | 2017-02-01 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001194397 | SCV001363905 | likely benign | not specified | 2019-10-23 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001392199 | SCV001593838 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2021-12-06 | criteria provided, single submitter | clinical testing |