Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000423208 | SCV000518945 | benign | not specified | 2016-11-16 | 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. |
Invitae | RCV000868359 | SCV001009677 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001808805 | SCV002056678 | benign | Developmental and epileptic encephalopathy, 5 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003902507 | SCV004720863 | likely benign | SPTAN1-related condition | 2019-06-13 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Department of Pediatrics, |
RCV001252828 | SCV001163971 | uncertain significance | Microcephaly | no assertion criteria provided | research |