Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Lupski Lab, |
RCV000785882 | SCV000920875 | likely pathogenic | Epileptic encephalopathy | 2019-06-12 | no assertion criteria provided | research | This variant was identified as homozygous in a male individual with epileptic encephalopathy and cerebellar atrophy. The homozygous variant segregated with disease in an affected sister of the proband. |