Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Medicine Lab, |
RCV001376045 | SCV001573060 | likely pathogenic | Landau-Kleffner syndrome | 2020-11-12 | criteria provided, single submitter | clinical testing | |
Medical Genetic Diagnosis and Therapy Center, |
RCV001376045 | SCV003853279 | likely pathogenic | Landau-Kleffner syndrome | 2023-02-14 | criteria provided, single submitter | clinical testing | This variant is classified as likely pathogenic according to the ACMG guidelines (LP: PM1+PM2+PM5+PP1). |