Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000228980 | SCV000283725 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000571069 | SCV000662398 | likely benign | Hereditary cancer-predisposing syndrome | 2016-07-06 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000586985 | SCV000695795 | likely benign | not specified | 2019-08-29 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000662378 | SCV000784775 | likely benign | Lynch syndrome 5 | 2017-04-28 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000571069 | SCV000908379 | likely benign | Hereditary cancer-predisposing syndrome | 2017-11-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001651083 | SCV001863816 | benign | not provided | 2015-05-01 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV000662378 | SCV004018446 | benign | Lynch syndrome 5 | 2023-03-27 | 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. |
Prevention |
RCV004541368 | SCV004772152 | likely benign | MSH6-related disorder | 2019-07-23 | 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, |
RCV003998711 | SCV004840018 | likely benign | Lynch syndrome | 2023-08-15 | criteria provided, single submitter | clinical testing |