Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001703595 | SCV000518567 | likely benign | not provided | 2020-01-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000534965 | SCV000644485 | benign | Tuberous sclerosis 2 | 2023-12-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000563673 | SCV000675579 | likely benign | Hereditary cancer-predisposing syndrome | 2018-06-18 | 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- |
RCV000534965 | SCV002039394 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000563673 | SCV002533469 | likely benign | Hereditary cancer-predisposing syndrome | 2021-01-13 | criteria provided, single submitter | curation |