Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001082567 | SCV000556571 | likely benign | Tuberous sclerosis 2 | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000828765 | SCV000970466 | likely benign | not provided | 2020-01-17 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 22810696) |
Ambry Genetics | RCV001020566 | SCV001182062 | likely benign | Hereditary cancer-predisposing syndrome | 2019-05-16 | 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- |
RCV001082567 | SCV002039338 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV001020566 | SCV002533419 | likely benign | Hereditary cancer-predisposing syndrome | 2021-01-28 | criteria provided, single submitter | curation | |
Fulgent Genetics, |
RCV002506145 | SCV002802587 | likely benign | Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 | 2022-04-22 | criteria provided, single submitter | clinical testing |