Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000231065 | SCV000285283 | benign | Tuberous sclerosis 2 | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000570050 | SCV000675603 | likely benign | Hereditary cancer-predisposing syndrome | 2016-06-18 | 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- |
RCV000231065 | SCV002041443 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000570050 | SCV002531040 | likely benign | Hereditary cancer-predisposing syndrome | 2021-06-25 | criteria provided, single submitter | curation | |
Color Diagnostics, |
RCV000231065 | SCV004360880 | likely benign | Tuberous sclerosis 2 | 2022-09-24 | criteria provided, single submitter | clinical testing |