Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001195716 | SCV001368568 | uncertain significance | Periventricular nodular heterotopia 9 | 2020-03-24 | criteria provided, single submitter | clinical testing | This variant was classified as: Uncertain significance. The available evidence favors the pathogenic nature of this variant, however the currently available data is insufficient to conclusively support its pathogenic nature. Thus this variant is classified as Uncertain significance - favor pathogenic. The following ACMG criteria were applied in classifying this variant: PM2. |
Epi4K Consortium | RCV000662229 | SCV000784586 | likely pathogenic | Periventricular nodular heterotopia | 2018-01-01 | no assertion criteria provided | research | |
OMIM | RCV001195716 | SCV001366128 | pathogenic | Periventricular nodular heterotopia 9 | 2020-07-01 | no assertion criteria provided | literature only |