Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000217579 | SCV000273891 | likely benign | Hereditary cancer-predisposing syndrome | 2015-01-29 | 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. |
Gene |
RCV001284033 | SCV000522770 | likely benign | not provided | 2019-02-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000463816 | SCV000562222 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-10-24 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000217579 | SCV000904784 | likely benign | Hereditary cancer-predisposing syndrome | 2018-09-04 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001284033 | SCV001469599 | likely benign | not provided | 2020-08-04 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003997828 | SCV004839844 | likely benign | Lynch syndrome | 2023-10-27 | criteria provided, single submitter | clinical testing |