Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000166698 | SCV000217506 | likely benign | Hereditary cancer-predisposing syndrome | 2014-12-23 | 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. |
Invitae | RCV000558725 | SCV000644424 | benign | Tuberous sclerosis 2 | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000558725 | SCV002039312 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000166698 | SCV002533385 | likely benign | Hereditary cancer-predisposing syndrome | 2021-09-18 | criteria provided, single submitter | curation | |
Tuberous sclerosis database |
RCV000042510 | SCV000066301 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |