Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000469892 | SCV000559206 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000570499 | SCV000662232 | likely benign | Hereditary cancer-predisposing syndrome | 2015-03-30 | 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. |
Color Diagnostics, |
RCV000570499 | SCV000684981 | likely benign | Hereditary cancer-predisposing syndrome | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001174849 | SCV001338239 | likely benign | not specified | 2021-07-12 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001284168 | SCV001469803 | likely benign | not provided | 2023-07-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001284168 | SCV001935204 | benign | not provided | 2015-03-21 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004002135 | SCV004829718 | likely benign | Lynch syndrome | 2023-10-30 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV001174849 | SCV005090940 | likely benign | not specified | 2024-07-31 | criteria provided, single submitter | clinical testing |