Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratoire de Génétique Moléculaire, |
RCV001281623 | SCV001468953 | likely pathogenic | not provided | criteria provided, single submitter | clinical testing | ||
OMIM | RCV001732109 | SCV001984763 | pathogenic | Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies | 2021-10-27 | no assertion criteria provided | literature only |