Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000123072 | SCV000166367 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000162650 | SCV000213088 | likely benign | Hereditary cancer-predisposing syndrome | 2014-07-12 | 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. |
Gene |
RCV001704043 | SCV000516712 | likely benign | not provided | 2020-02-24 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000162650 | SCV000686094 | likely benign | Hereditary cancer-predisposing syndrome | 2016-11-18 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000162650 | SCV002529756 | likely benign | Hereditary cancer-predisposing syndrome | 2021-06-27 | criteria provided, single submitter | curation | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002509229 | SCV002819341 | likely benign | not specified | 2022-12-08 | criteria provided, single submitter | clinical testing |