Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000514834 | SCV000609908 | likely benign | not provided | 2017-06-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000610090 | SCV000729732 | likely benign | not specified | 2017-10-09 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Institute for Clinical Genetics, |
RCV000514834 | SCV002010029 | likely benign | not provided | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001764509 | SCV002349095 | benign | Rhabdoid tumor predisposition syndrome 2 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002496981 | SCV002799011 | likely benign | Rhabdoid tumor predisposition syndrome 2; Intellectual disability, autosomal dominant 16 | 2022-05-24 | criteria provided, single submitter | clinical testing |