Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000757897 | SCV001335390 | likely pathogenic | Global developmental delay with or without impaired intellectual development | 2018-08-31 | criteria provided, single submitter | clinical testing | This variant was identified as de novo (maternity and paternity confirmed). |
OMIM | RCV000757897 | SCV000886407 | pathogenic | Global developmental delay with or without impaired intellectual development | 2019-02-18 | no assertion criteria provided | literature only |