Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000162386 | SCV000212699 | likely benign | Hereditary cancer-predisposing syndrome | 2018-03-20 | 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. |
Department of Pathology and Laboratory Medicine, |
RCV000202228 | SCV000592648 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Color | RCV000162386 | SCV000911650 | benign | Hereditary cancer-predisposing syndrome | 2015-04-08 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000986736 | SCV001135841 | likely benign | Hereditary nonpolyposis colorectal cancer type 5 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Genetic Testing Laboratories, |
RCV000202228 | SCV000257263 | likely benign | not specified | no assertion criteria provided | clinical testing |