Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000162411 | SCV000212747 | likely benign | Hereditary cancer-predisposing syndrome | 2015-09-22 | 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 | RCV001085640 | SCV000253090 | benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000409862 | SCV000488419 | likely benign | Lynch syndrome 5 | 2016-03-22 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000162411 | SCV000685227 | likely benign | Hereditary cancer-predisposing syndrome | 2015-06-01 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000759129 | SCV000888250 | benign | not provided | 2017-11-27 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000781577 | SCV000919735 | likely benign | not specified | 2021-07-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000759129 | SCV001859352 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000162411 | SCV002535659 | likely benign | Hereditary cancer-predisposing syndrome | 2021-11-15 | criteria provided, single submitter | curation | |
Myriad Genetics, |
RCV000409862 | SCV004018876 | benign | Lynch syndrome 5 | 2023-03-28 | criteria provided, single submitter | clinical testing | This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing. |
Prevention |
RCV004544475 | SCV004773767 | likely benign | MSH6-related disorder | 2020-02-25 | 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, |
RCV003998541 | SCV004840096 | likely benign | Lynch syndrome | 2023-10-30 | criteria provided, single submitter | clinical testing |