Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, |
RCV000144247 | SCV000998512 | likely pathogenic | Microcephaly, short stature, and impaired glucose metabolism 1 | criteria provided, single submitter | clinical testing | ||
OMIM | RCV000144247 | SCV000189379 | pathogenic | Microcephaly, short stature, and impaired glucose metabolism 1 | 2013-10-01 | no assertion criteria provided | literature only |