Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000469641 | SCV000556690 | benign | Tuberous sclerosis 2 | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000563588 | SCV000675522 | likely benign | Hereditary cancer-predisposing syndrome | 2019-02-04 | 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. |
Gene |
RCV001551734 | SCV001772305 | likely benign | not provided | 2020-08-22 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 24686850) |
Genome- |
RCV000469641 | SCV002039887 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000563588 | SCV002534003 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-12-13 | criteria provided, single submitter | curation | |
Tuberous sclerosis database |
RCV000055068 | SCV000083286 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |