Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001082783 | SCV000285463 | benign | Tuberous sclerosis 2 | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000229648 | SCV000527248 | likely benign | not provided | 2020-04-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000575460 | SCV000675567 | likely benign | Hereditary cancer-predisposing syndrome | 2015-08-27 | 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. |
Genome- |
RCV001082783 | SCV002040293 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000575460 | SCV002534062 | likely benign | Hereditary cancer-predisposing syndrome | 2021-12-17 | criteria provided, single submitter | curation | |
Fulgent Genetics, |
RCV002500761 | SCV002802373 | likely benign | Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 | 2022-01-10 | criteria provided, single submitter | clinical testing |