Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000865635 | SCV001006631 | likely benign | Tuberous sclerosis 2 | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001582536 | SCV001812824 | likely benign | not provided | 2020-11-24 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000865635 | SCV002039230 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002426585 | SCV002741243 | likely benign | Hereditary cancer-predisposing syndrome | 2021-02-03 | 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. |
Tuberous sclerosis database |
RCV000042476 | SCV000066267 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |