Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000219666 | SCV000274126 | likely benign | Hereditary cancer-predisposing syndrome | 2015-02-19 | 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 | RCV001080176 | SCV000561505 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000827019 | SCV000968630 | likely benign | not provided | 2018-05-04 | 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. |
Color Diagnostics, |
RCV000219666 | SCV001352803 | likely benign | Hereditary cancer-predisposing syndrome | 2019-11-15 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000827019 | SCV001469821 | likely benign | not provided | 2020-07-23 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003323459 | SCV004030071 | likely benign | not specified | 2023-07-05 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003997845 | SCV004835644 | likely benign | Lynch syndrome | 2023-11-30 | criteria provided, single submitter | clinical testing |