Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000165210 | SCV000215922 | likely benign | Hereditary cancer-predisposing syndrome | 2014-08-01 | 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 | RCV000470046 | SCV000561491 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-21 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000507306 | SCV000604269 | likely benign | not specified | 2016-08-05 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000165210 | SCV000690481 | likely benign | Hereditary cancer-predisposing syndrome | 2017-08-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001711336 | SCV001945124 | benign | not provided | 2015-06-26 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000507306 | SCV002547893 | likely benign | not specified | 2022-05-03 | criteria provided, single submitter | clinical testing | |
Institute for Biomarker Research, |
RCV000165210 | SCV004014900 | likely benign | Hereditary cancer-predisposing syndrome | 2023-06-27 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004535108 | SCV004720817 | likely benign | MSH6-related disorder | 2019-06-19 | 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, |
RCV003995404 | SCV004832343 | likely benign | Lynch syndrome | 2023-06-26 | criteria provided, single submitter | clinical testing |