Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000958816 | SCV001105693 | benign | not provided | 2017-12-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000958816 | SCV002004805 | likely benign | not provided | 2022-04-22 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Genetic Services Laboratory, |
RCV001819019 | SCV002069767 | benign | not specified | 2021-11-30 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002256632 | SCV002536025 | benign | Hereditary cancer-predisposing syndrome | 2021-06-23 | criteria provided, single submitter | curation | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001819019 | SCV002773909 | benign | not specified | 2021-10-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002548266 | SCV003712704 | benign | Inborn genetic diseases | 2022-05-05 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Center for Genomic Medicine, |
RCV001819019 | SCV004024694 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing |