Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000214189 | SCV000276612 | likely benign | Hereditary cancer-predisposing syndrome | 2015-03-07 | 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 | RCV000230461 | SCV000283763 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-12-12 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000214189 | SCV000685317 | likely benign | Hereditary cancer-predisposing syndrome | 2017-05-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000616409 | SCV000713971 | likely benign | not specified | 2018-01-30 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000616409 | SCV000917731 | likely benign | not specified | 2019-08-29 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001800564 | SCV002046508 | likely benign | not provided | 2020-12-16 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003997977 | SCV004840772 | likely benign | Lynch syndrome | 2023-05-31 | criteria provided, single submitter | clinical testing |