Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000528082 | SCV000644350 | likely benign | Tuberous sclerosis 2 | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001015631 | SCV001176484 | likely benign | Hereditary cancer-predisposing syndrome | 2018-03-20 | 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 |
RCV001547772 | SCV001767555 | likely benign | not provided | 2019-03-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000528082 | SCV002041476 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV001015631 | SCV002531072 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-07-11 | criteria provided, single submitter | curation |