Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000189878 | SCV000243531 | likely benign | not specified | 2014-12-31 | criteria provided, single submitter | clinical testing | The variant is found in TUBSC-EPIV2 panel(s). |
Invitae | RCV000540959 | SCV000644683 | likely benign | Tuberous sclerosis 2 | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001019098 | SCV001180412 | benign | Hereditary cancer-predisposing syndrome | 2021-01-15 | criteria provided, single submitter | clinical testing | This alteration is classified as 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- |
RCV000540959 | SCV002041116 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Tuberous sclerosis database |
RCV000042653 | SCV000066448 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |