Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000175250 | SCV000226700 | uncertain significance | not provided | 2014-07-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001495685 | SCV001700370 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2023-05-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002444700 | SCV002733653 | likely benign | Inborn genetic diseases | 2018-04-14 | 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. |