Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000662516 | SCV000785060 | likely benign | Lynch syndrome 5 | 2017-03-28 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000774587 | SCV000908346 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-11-17 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001854287 | SCV002116970 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-12-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000774587 | SCV002637028 | likely benign | Hereditary cancer-predisposing syndrome | 2019-09-19 | 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. |
Myriad Genetics, |
RCV000662516 | SCV004019051 | uncertain significance | Lynch syndrome 5 | 2023-03-29 | criteria provided, single submitter | clinical testing | This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk. |