Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000573742 | SCV000675638 | likely benign | Hereditary cancer-predisposing syndrome | 2015-06-22 | 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. |
Invitae | RCV000644317 | SCV000766010 | benign | Tuberous sclerosis 2 | 2023-12-03 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000644317 | SCV002041368 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002497218 | SCV002807811 | likely benign | Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 | 2022-01-08 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000644317 | SCV004360868 | likely benign | Tuberous sclerosis 2 | 2022-09-21 | criteria provided, single submitter | clinical testing |