Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000315403 | SCV000471917 | likely benign | Benign Neonatal Epilepsy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000351439 | SCV000471918 | likely benign | Benign neonatal seizures | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000351439 | SCV001640492 | likely benign | Benign neonatal seizures | 2024-11-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002402076 | SCV002704723 | likely benign | Inborn genetic diseases | 2019-12-30 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |