Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000988254 | SCV001137905 | likely pathogenic | Developmental and epileptic encephalopathy, 4 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV000988254 | SCV001429080 | likely pathogenic | Developmental and epileptic encephalopathy, 4 | 2018-08-22 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV001255351 | SCV001431681 | likely pathogenic | Intellectual disability | 2020-08-03 | criteria provided, single submitter | clinical testing | The variant c.862T>C, p.(Trp288Arg) was identified in an individual with neurodevelopmental disorder (NDD) and classified as Likely pathogenic according to ACMG guidelines. Inheritance for this variant was DNV.The variant likely explains the NDD in this individual. |