Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000656574 | SCV000519144 | likely benign | not provided | 2020-01-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001080984 | SCV000561529 | benign | Hereditary nonpolyposis colorectal neoplasms | 2023-12-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000572086 | SCV000662441 | likely benign | Hereditary cancer-predisposing syndrome | 2016-02-14 | 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, |
RCV000572086 | SCV000685395 | likely benign | Hereditary cancer-predisposing syndrome | 2016-12-16 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000656574 | SCV000888272 | benign | not provided | 2022-10-07 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002230245 | SCV002511420 | benign | not specified | 2022-04-29 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000572086 | SCV002528017 | benign | Hereditary cancer-predisposing syndrome | 2020-10-12 | criteria provided, single submitter | curation | |
Center for Genomic Medicine, |
RCV002230245 | SCV002552338 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003996055 | SCV004835061 | likely benign | Lynch syndrome | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000656574 | SCV000778623 | likely benign | not provided | 2017-10-26 | no assertion criteria provided | clinical testing |