Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000575094 | SCV000675541 | likely benign | Hereditary cancer-predisposing syndrome | 2016-10-13 | 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. |
Invitae | RCV000920217 | SCV001065577 | likely benign | Tuberous sclerosis 2 | 2023-12-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001683595 | SCV001896471 | likely benign | not provided | 2019-05-09 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000920217 | SCV002039923 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000575094 | SCV002534028 | likely benign | Hereditary cancer-predisposing syndrome | 2021-03-10 | criteria provided, single submitter | curation |