Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000162812 | SCV000213293 | likely benign | Hereditary cancer-predisposing syndrome | 2014-10-22 | 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 | RCV000198600 | SCV000253096 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-12-29 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000412030 | SCV000488409 | likely benign | Lynch syndrome 5 | 2016-03-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001721031 | SCV000513693 | likely benign | not provided | 2020-01-02 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000162812 | SCV000685289 | likely benign | Hereditary cancer-predisposing syndrome | 2015-04-25 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000162812 | SCV002535745 | likely benign | Hereditary cancer-predisposing syndrome | 2021-10-14 | criteria provided, single submitter | curation | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002509262 | SCV002819425 | likely benign | not specified | 2022-12-02 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV000412030 | SCV004018903 | 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. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001721031 | SCV004221179 | likely benign | not provided | 2023-05-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004544484 | SCV004782657 | likely benign | MSH6-related disorder | 2019-09-05 | 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, |
RCV003995222 | SCV004842515 | likely benign | Lynch syndrome | 2023-12-18 | criteria provided, single submitter | clinical testing |