Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000220844 | SCV000273302 | likely benign | Hereditary cancer-predisposing syndrome | 2015-01-07 | 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. |
Invitae | RCV000459024 | SCV000562213 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000220844 | SCV000904846 | likely benign | Hereditary cancer-predisposing syndrome | 2018-06-05 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001193968 | SCV001363164 | likely benign | not specified | 2019-10-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001312103 | SCV001935408 | likely benign | not provided | 2019-07-31 | criteria provided, single submitter | clinical testing |