Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000165961 | SCV000216718 | likely benign | Hereditary cancer-predisposing syndrome | 2020-09-10 | 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 | RCV000524409 | SCV000253158 | benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001703979 | SCV000515456 | likely benign | not provided | 2021-01-18 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 10978353, 8872463, 12419761, 9322509) |
Counsyl | RCV000662573 | SCV000785183 | likely benign | Lynch syndrome 1 | 2017-05-25 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000165961 | SCV000910944 | likely benign | Hereditary cancer-predisposing syndrome | 2016-08-31 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001797623 | SCV002041517 | likely benign | not specified | 2021-11-01 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV001797623 | SCV002519428 | benign | not specified | 2022-05-04 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000165961 | SCV002534523 | likely benign | Hereditary cancer-predisposing syndrome | 2022-02-08 | criteria provided, single submitter | curation | |
Myriad Genetics, |
RCV000662573 | SCV004018366 | benign | Lynch syndrome 1 | 2023-03-22 | criteria provided, single submitter | clinical testing | This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing. |
All of Us Research Program, |
RCV003997175 | SCV004830310 | likely benign | Lynch syndrome | 2023-11-30 | criteria provided, single submitter | clinical testing |