Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001199300 | SCV001370378 | uncertain significance | Infantile convulsions and choreoathetosis | 2016-01-01 | criteria provided, single submitter | clinical testing | This variant was classified as: Uncertain significance. This variant was detected in homozygous state. |