Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001027521 | SCV002525928 | likely pathogenic | Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type | 2022-05-17 | criteria provided, single submitter | clinical testing | |
OMIM | RCV001027521 | SCV001190093 | pathogenic | Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type | 2020-03-17 | no assertion criteria provided | literature only | |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001724211 | SCV001954363 | likely pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001724211 | SCV001964312 | likely pathogenic | not provided | no assertion criteria provided | clinical testing |