Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000233238 | SCV000528199 | likely benign | not provided | 2021-04-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000569012 | SCV000673917 | likely benign | Hereditary cancer-predisposing syndrome | 2016-04-13 | 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. |
Color Diagnostics, |
RCV000569012 | SCV000905514 | likely benign | Hereditary cancer-predisposing syndrome | 2018-07-03 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000418892 | SCV001363794 | likely benign | not specified | 2020-01-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001392141 | SCV001593776 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2022-08-23 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000233238 | SCV002774200 | likely benign | not provided | 2021-08-26 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004532834 | SCV004708397 | likely benign | MSH6-related disorder | 2020-11-24 | 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, |
RCV003998731 | SCV004829186 | likely benign | Lynch syndrome | 2023-08-15 | criteria provided, single submitter | clinical testing |