Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001255342 | SCV001431672 | pathogenic | Intellectual disability | 2020-08-03 | criteria provided, single submitter | clinical testing | The variant c.6135+1G>A, p.? was identified in an individual with neurodevelopmental disorder (NDD) and classified as Pathogenic according to ACMG guidelines. Inheritance for this variant was maternal.The variant likely explains the NDD in this individual. |
Institute of Human Genetics, |
RCV001262195 | SCV001439980 | pathogenic | Joubert syndrome 5 | 2019-01-01 | criteria provided, single submitter | clinical testing | This variant was identified as compound heterozygous. |