Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000457153 | SCV000544443 | benign | Tuberous sclerosis 2 | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000568724 | SCV000675520 | likely benign | Hereditary cancer-predisposing syndrome | 2018-03-21 | 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, |
RCV000765267 | SCV000896520 | uncertain significance | Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000457153 | SCV002039605 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing |