Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
VIB - |
RCV000855538 | SCV000995825 | likely pathogenic | Severe myoclonic epilepsy in infancy | 2018-09-19 | no assertion criteria provided | research | Our study identified a de novo variant in a poison exon of SCN1A in a patient with Dravet syndrome, that was absent in publicly available databases such as gnomAD, which is consistent with negative selection in human populations. The variant was validated with Sanger sequencing, and maternity and paternity was confirmed using the same in-house developed multiplex PCR panel. |