Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000385968 | SCV000342591 | likely benign | not specified | 2016-06-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000636518 | SCV000757957 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2023-05-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000827025 | SCV000968636 | likely benign | not provided | 2018-05-04 | 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. |