Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000703318 | SCV000832215 | benign | Early infantile epileptic encephalopathy with suppression bursts | 2023-12-17 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000763861 | SCV000894795 | uncertain significance | Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002343547 | SCV002654323 | likely benign | Inborn genetic diseases | 2017-09-18 | 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. |
Juno Genomics, |
RCV004796288 | SCV005418844 | uncertain significance | Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5; Myoclonus, familial, 2 | criteria provided, single submitter | clinical testing | PM2_Supporting |