Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000725944 | SCV000340713 | uncertain significance | not provided | 2016-04-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000725944 | SCV000589462 | likely benign | not provided | 2020-06-03 | criteria provided, single submitter | clinical testing | The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); Predicted to be within the extracellular loop between the S5 and S6 transmembrane segments of the third homologous domain |
Ambry Genetics | RCV002317815 | SCV000849539 | likely benign | Inborn genetic diseases | 2017-05-09 | 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. |
Invitae | RCV000794768 | SCV000934196 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2023-12-07 | criteria provided, single submitter | clinical testing |