Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000147627 | SCV000171838 | benign | not specified | 2013-01-31 | 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, |
RCV000147627 | SCV000195076 | benign | not specified | 2013-05-16 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000147627 | SCV000306755 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Center for Pediatric Genomic Medicine, |
RCV000515052 | SCV000609522 | likely benign | not provided | 2017-02-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001808367 | SCV002056663 | benign | Developmental and epileptic encephalopathy, 5 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002055823 | SCV002370055 | benign | Early infantile epileptic encephalopathy with suppression bursts | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001808367 | SCV002798450 | likely benign | Developmental and epileptic encephalopathy, 5 | 2021-08-26 | criteria provided, single submitter | clinical testing |