Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001198243 | SCV001369115 | likely pathogenic | Intellectual disability, autosomal dominant 5 | 2016-01-01 | criteria provided, single submitter | clinical testing | This variant was classified as: Likely pathogenic. |
Centre for Mendelian Genomics, |
RCV000414895 | SCV000492598 | likely pathogenic | Cerebellar ataxia; Global developmental delay; Absent speech | 2016-04-19 | no assertion criteria provided | clinical testing |