Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000214433 | SCV000273836 | likely benign | Hereditary cancer-predisposing syndrome | 2015-02-03 | 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. |
Invitae | RCV001089110 | SCV000562230 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-12-17 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000679347 | SCV000601809 | likely benign | not provided | 2021-06-01 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000214433 | SCV000686100 | likely benign | Hereditary cancer-predisposing syndrome | 2016-03-02 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000679347 | SCV000806164 | likely benign | not provided | 2016-12-08 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000507979 | SCV001360705 | likely benign | not specified | 2020-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000679347 | SCV001904099 | benign | not provided | 2015-03-17 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000214433 | SCV002529762 | likely benign | Hereditary cancer-predisposing syndrome | 2021-12-10 | criteria provided, single submitter | curation |