Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000221508 | SCV000273835 | likely benign | Hereditary cancer-predisposing syndrome | 2015-02-06 | 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. |
Invitae | RCV000457090 | SCV000548236 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2022-11-09 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000221508 | SCV000690014 | likely benign | Hereditary cancer-predisposing syndrome | 2017-10-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001650983 | SCV001863810 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 24728327) |
All of Us Research Program, |
RCV003997348 | SCV004834037 | likely benign | Lynch syndrome | 2024-02-05 | criteria provided, single submitter | clinical testing | |
ITMI | RCV000121561 | SCV000085755 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |