Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000456276 | SCV000556628 | benign | Tuberous sclerosis 2 | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001696906 | SCV000721658 | likely benign | not provided | 2020-01-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000456276 | SCV002039946 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001821318 | SCV002070423 | likely benign | not specified | 2021-12-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002350009 | SCV002640708 | likely benign | Hereditary cancer-predisposing syndrome | 2019-11-13 | 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. |