Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001171948 | SCV000517876 | likely benign | not provided | 2021-01-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000474559 | SCV000559195 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-12-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000566649 | SCV000662217 | likely benign | Hereditary cancer-predisposing syndrome | 2015-01-18 | 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, |
RCV000566649 | SCV000685119 | likely benign | Hereditary cancer-predisposing syndrome | 2016-02-23 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000435277 | SCV000696279 | likely benign | not specified | 2019-08-29 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001171948 | SCV001334858 | likely benign | not provided | 2020-04-01 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000566649 | SCV002534553 | likely benign | Hereditary cancer-predisposing syndrome | 2020-10-28 | criteria provided, single submitter | curation | |
Prevention |
RCV004530564 | SCV004744582 | likely benign | MSH2-related disorder | 2019-05-17 | 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, |
RCV003996035 | SCV004826172 | likely benign | Lynch syndrome | 2023-12-13 | criteria provided, single submitter | clinical testing |