Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000153910 | SCV000203525 | likely benign | not specified | 2014-12-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001719952 | SCV000242933 | likely benign | not provided | 2019-02-21 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 33083721) |
Invitae | RCV000636294 | SCV000757733 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2023-11-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002390338 | SCV002697383 | likely benign | Inborn genetic diseases | 2019-03-22 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Prevention |
RCV003927488 | SCV004745662 | likely benign | SCN8A-related condition | 2022-08-19 | 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). |