Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000206862 | SCV000261656 | benign | Tuberous sclerosis 2 | 2024-01-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002336570 | SCV002637694 | likely benign | Hereditary cancer-predisposing syndrome | 2020-03-04 | 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. |
Fulgent Genetics, |
RCV002503811 | SCV002804530 | likely benign | Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 | 2022-03-18 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV003150980 | SCV003839171 | likely benign | not specified | 2022-09-13 | no assertion criteria provided | clinical testing |