Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000552561 | SCV000644647 | likely benign | Tuberous sclerosis 2 | 2024-01-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001024464 | SCV001186487 | likely benign | Hereditary cancer-predisposing syndrome | 2019-05-16 | 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- |
RCV000552561 | SCV002041233 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Tuberous sclerosis database |
RCV000055288 | SCV000083508 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |