Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Medical Genetics and Applied Genomics, |
RCV001268749 | SCV001447905 | likely pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
OMIM | RCV002274175 | SCV000030766 | pathogenic | Intellectual disability, X-linked 96 | 2009-05-01 | no assertion criteria provided | literature only |