Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000079607 | SCV000111489 | likely benign | not specified | 2015-04-03 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000147080 | SCV000194430 | uncertain significance | Early infantile epileptic encephalopathy 9 | 2013-02-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000079607 | SCV000241933 | likely benign | not specified | 2018-02-01 | 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. |
Genetic Services Laboratory, |
RCV000079607 | SCV000248449 | uncertain significance | not specified | 2015-05-22 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
RCV000434675 | SCV000511395 | likely benign | not provided | 2017-02-13 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Invitae | RCV000147080 | SCV000559660 | likely benign | Early infantile epileptic encephalopathy 9 | 2017-11-08 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000079607 | SCV000614419 | benign | not specified | 2017-08-02 | criteria provided, single submitter | clinical testing | |
Center for Human Genetics, |
RCV000147080 | SCV000782229 | likely benign | Early infantile epileptic encephalopathy 9 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000720924 | SCV000851808 | benign | History of neurodevelopmental disorder | 2017-06-27 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance |
Bioinformatics Core, |
RCV000656077 | SCV000588353 | pathogenic | Rolandic epilepsy | 2017-01-01 | no assertion criteria provided | case-control | CAADphred>15 |