Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000206126 | SCV000260380 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000563571 | SCV000662594 | likely benign | Hereditary cancer-predisposing syndrome | 2017-09-11 | 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. |
Gene |
RCV000605812 | SCV000726975 | likely benign | not specified | 2018-01-24 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Color Diagnostics, |
RCV000563571 | SCV001347204 | likely benign | Hereditary cancer-predisposing syndrome | 2019-01-23 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000605812 | SCV002051268 | likely benign | not specified | 2021-12-20 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004530226 | SCV004714267 | likely benign | MSH6-related disorder | 2021-11-09 | 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, |
RCV003997611 | SCV004834444 | likely benign | Lynch syndrome | 2023-10-27 | criteria provided, single submitter | clinical testing |