Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000214910 | SCV000273936 | likely benign | Hereditary cancer-predisposing syndrome | 2015-02-10 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |
Gene |
RCV000441268 | SCV000524191 | likely benign | not specified | 2017-01-04 | 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, |
RCV000214910 | SCV000686240 | likely benign | Hereditary cancer-predisposing syndrome | 2017-03-16 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000759927 | SCV000889640 | likely benign | not provided | 2021-07-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001088373 | SCV001014900 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-12-18 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000759927 | SCV001155034 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | PMS2: BP4, BP7 |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000441268 | SCV002600319 | likely benign | not specified | 2022-10-06 | criteria provided, single submitter | clinical testing |