Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000227029 | SCV000287546 | likely benign | Colorectal cancer, susceptibility to, 10 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000679486 | SCV000520796 | likely benign | not provided | 2021-02-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000572171 | SCV000670927 | likely benign | Hereditary cancer-predisposing syndrome | 2024-03-07 | 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. |
Prevention |
RCV000679486 | SCV000806484 | likely benign | not provided | 2018-01-11 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000227029 | SCV001141149 | likely benign | Colorectal cancer, susceptibility to, 10 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000572171 | SCV002534616 | benign | Hereditary cancer-predisposing syndrome | 2021-04-16 | criteria provided, single submitter | curation | |
Ce |
RCV000679486 | SCV004011094 | likely benign | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | POLD1: BP4 |
Center for Genomic Medicine, |
RCV003493539 | SCV004242995 | likely benign | not specified | 2024-02-06 | criteria provided, single submitter | clinical testing | |
Molecular Oncology Laboratory, |
RCV000227029 | SCV000844937 | benign | Colorectal cancer, susceptibility to, 10 | 2018-06-01 | no assertion criteria provided | clinical testing |