Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000163354 | SCV000213888 | likely benign | Hereditary cancer-predisposing syndrome | 2014-07-11 | 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. |
Invitae | RCV001086241 | SCV000253139 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000759086 | SCV000517841 | likely benign | not provided | 2021-01-26 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000163354 | SCV000684821 | likely benign | Hereditary cancer-predisposing syndrome | 2016-12-19 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000759086 | SCV000888184 | likely benign | not provided | 2020-09-22 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000987150 | SCV001136373 | likely benign | Colorectal cancer, hereditary nonpolyposis, type 2 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000163354 | SCV002528740 | likely benign | Hereditary cancer-predisposing syndrome | 2021-07-21 | criteria provided, single submitter | curation | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002271432 | SCV002556045 | likely benign | not specified | 2022-06-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003982912 | SCV004797265 | likely benign | MLH1-related disorder | 2022-05-26 | 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, |
RCV003995249 | SCV004835272 | likely benign | Lynch syndrome | 2023-12-18 | criteria provided, single submitter | clinical testing |