Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000679531 | SCV000524418 | likely benign | not provided | 2019-02-27 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 26832770) |
Invitae | RCV001079598 | SCV000558762 | likely benign | Colorectal cancer, susceptibility to, 10 | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000421552 | SCV000601959 | likely benign | not specified | 2017-03-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000570018 | SCV000671044 | likely benign | Hereditary cancer-predisposing syndrome | 2016-06-03 | 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. |
Prevention |
RCV000679531 | SCV000806565 | likely benign | not provided | 2017-02-24 | criteria provided, single submitter | clinical testing |