Total submissions: 14
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000165457 | SCV000216187 | likely benign | Hereditary cancer-predisposing syndrome | 2014-08-27 | 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 | RCV001084676 | SCV000260986 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000410055 | SCV000489412 | likely benign | Lynch syndrome 1 | 2016-10-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000203982 | SCV000516738 | likely benign | not provided | 2021-02-23 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 14688830, 24362816) |
Color Diagnostics, |
RCV000165457 | SCV000685005 | likely benign | Hereditary cancer-predisposing syndrome | 2015-07-20 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000410055 | SCV001135749 | likely benign | Lynch syndrome 1 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000203982 | SCV001152282 | likely benign | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | MSH2: BP4, BP7 |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000203982 | SCV001469807 | likely benign | not provided | 2023-08-18 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001818380 | SCV002068602 | likely benign | not specified | 2019-02-22 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000165457 | SCV002534443 | likely benign | Hereditary cancer-predisposing syndrome | 2021-08-19 | criteria provided, single submitter | curation | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001818380 | SCV003934380 | likely benign | not specified | 2023-05-14 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV000410055 | SCV004018258 | benign | Lynch syndrome 1 | 2023-03-17 | 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 |
RCV004535113 | SCV004742972 | likely benign | MSH2-related disorder | 2019-09-11 | 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, |
RCV003995420 | SCV004825261 | likely benign | Lynch syndrome | 2023-12-01 | criteria provided, single submitter | clinical testing |