Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001703509 | SCV000515025 | likely benign | not provided | 2019-04-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000543083 | SCV000644291 | likely benign | Tuberous sclerosis 2 | 2023-12-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000574474 | SCV000675646 | likely benign | Hereditary cancer-predisposing syndrome | 2017-07-26 | 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- |
RCV000543083 | SCV002041399 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002488892 | SCV002794634 | likely benign | Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 | 2021-09-27 | criteria provided, single submitter | clinical testing |