Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000203689 | SCV000260478 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001722122 | SCV000517460 | likely benign | not provided | 2021-02-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000565426 | SCV000669718 | likely benign | Hereditary cancer-predisposing syndrome | 2020-04-03 | 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. |
Counsyl | RCV000662873 | SCV000785765 | uncertain significance | Lynch syndrome 1 | 2017-11-30 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000565426 | SCV000905223 | likely benign | Hereditary cancer-predisposing syndrome | 2017-10-31 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001798681 | SCV002042112 | uncertain significance | Breast and/or ovarian cancer | 2020-11-02 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000565426 | SCV002534546 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-02-04 | criteria provided, single submitter | curation | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003235128 | SCV003934381 | uncertain significance | not specified | 2023-05-13 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV000662873 | SCV004018249 | likely benign | Lynch syndrome 1 | 2023-03-17 | criteria provided, single submitter | clinical testing | This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing. |
Prevention |
RCV004530227 | SCV004720111 | likely benign | MSH2-related disorder | 2019-08-01 | 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, |
RCV003997616 | SCV004816595 | likely benign | Lynch syndrome | 2023-11-20 | criteria provided, single submitter | clinical testing |