Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000228848 | SCV000285454 | benign | Tuberous sclerosis 2 | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001023840 | SCV001185770 | likely benign | Hereditary cancer-predisposing syndrome | 2015-11-02 | 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- |
RCV000228848 | SCV002039941 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001808585 | SCV002056083 | likely benign | not provided | 2021-03-17 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV001023840 | SCV002534047 | likely benign | Hereditary cancer-predisposing syndrome | 2021-03-05 | criteria provided, single submitter | curation |