Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000758566 | SCV001440981 | likely pathogenic | Microcephalic osteodysplastic primordial dwarfism type II | 2019-01-01 | criteria provided, single submitter | clinical testing | |
The Genetics Institute, |
RCV000758566 | SCV000886545 | pathogenic | Microcephalic osteodysplastic primordial dwarfism type II | no assertion criteria provided | clinical testing | ||
Service de Génétique Moléculaire, |
RCV000758566 | SCV001432321 | likely pathogenic | Microcephalic osteodysplastic primordial dwarfism type II | no assertion criteria provided | clinical testing | ||
OMIM | RCV000758566 | SCV001478377 | pathogenic | Microcephalic osteodysplastic primordial dwarfism type II | 2021-02-02 | no assertion criteria provided | literature only | |
Gene |
RCV000758566 | SCV002073953 | not provided | Microcephalic osteodysplastic primordial dwarfism type II | no assertion provided | literature only | Founder variant in Israeli Druze population |