Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000165213 | SCV000215926 | likely benign | Hereditary cancer-predisposing syndrome | 2014-07-31 | 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. |
Invitae | RCV000232343 | SCV000284150 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-11-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001697096 | SCV000525385 | likely benign | not provided | 2021-03-01 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000444221 | SCV000601465 | likely benign | not specified | 2017-06-09 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000165213 | SCV000903535 | likely benign | Hereditary cancer-predisposing syndrome | 2017-12-04 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000165213 | SCV002534469 | likely benign | Hereditary cancer-predisposing syndrome | 2022-02-04 | criteria provided, single submitter | curation | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000444221 | SCV002819637 | likely benign | not specified | 2022-12-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004539551 | SCV004757444 | likely benign | MSH2-related disorder | 2022-06-02 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
All of Us Research Program, |
RCV003995405 | SCV004825958 | likely benign | Lynch syndrome | 2023-10-27 | criteria provided, single submitter | clinical testing |