Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000128278 | SCV000171870 | benign | not specified | 2013-09-19 | 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. |
Eurofins Ntd Llc |
RCV000727497 | SCV000709143 | uncertain significance | not provided | 2017-06-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001084816 | SCV000757950 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001808392 | SCV002056613 | benign | Developmental and epileptic encephalopathy, 5 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001808392 | SCV004563115 | likely benign | Developmental and epileptic encephalopathy, 5 | 2023-11-14 | criteria provided, single submitter | clinical testing |