Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000470982 | SCV000556584 | benign | Tuberous sclerosis 2 | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001704568 | SCV000714129 | likely benign | not provided | 2021-01-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001021882 | SCV001183551 | likely benign | Hereditary cancer-predisposing syndrome | 2019-08-02 | 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- |
RCV000470982 | SCV002039424 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV001021882 | SCV002533504 | likely benign | Hereditary cancer-predisposing syndrome | 2021-12-23 | criteria provided, single submitter | curation | |
Fulgent Genetics, |
RCV002496807 | SCV002795924 | likely benign | Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 | 2021-07-06 | criteria provided, single submitter | clinical testing |