Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000163705 | SCV000214279 | likely benign | Hereditary cancer-predisposing syndrome | 2015-06-30 | 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 | RCV001086763 | SCV000259912 | benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000759085 | SCV000520531 | likely benign | not provided | 2019-07-09 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000163705 | SCV000684808 | likely benign | Hereditary cancer-predisposing syndrome | 2017-03-30 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000759085 | SCV000888181 | benign | not provided | 2018-01-17 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000422308 | SCV001361968 | likely benign | not specified | 2019-10-10 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000163705 | SCV002528731 | likely benign | Hereditary cancer-predisposing syndrome | 2021-10-19 | criteria provided, single submitter | curation | |
Prevention |
RCV003907510 | SCV004724591 | likely benign | MLH1-related disorder | 2019-08-06 | 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, |
RCV003995274 | SCV004835211 | likely benign | Lynch syndrome | 2023-11-20 | criteria provided, single submitter | clinical testing |