Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000128277 | SCV000171869 | benign | not specified | 2013-08-01 | 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, |
RCV000147658 | SCV000195107 | uncertain significance | Developmental and epileptic encephalopathy, 5 | 2014-05-06 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000725332 | SCV000336104 | uncertain significance | not provided | 2015-11-02 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001086915 | SCV000562982 | benign | Early infantile epileptic encephalopathy with suppression bursts | 2025-01-25 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000147658 | SCV002056612 | benign | Developmental and epileptic encephalopathy, 5 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000725332 | SCV001928747 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000725332 | SCV001975282 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Prevention |
RCV004551233 | SCV004747996 | likely benign | SPTAN1-related disorder | 2019-07-10 | no assertion criteria provided | 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). |