Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000475200 | SCV000544414 | likely benign | Tuberous sclerosis 2 | 2023-12-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000564701 | SCV000675764 | likely benign | Hereditary cancer-predisposing syndrome | 2022-11-22 | 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- |
RCV000475200 | SCV002040654 | uncertain significance | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000564701 | SCV002531018 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-06-07 | criteria provided, single submitter | curation |