Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Service de Biologie Medicale, |
RCV002463372 | SCV002525508 | likely pathogenic | Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome | 2021-10-29 | no assertion criteria provided | clinical testing | |
OMIM | RCV002463372 | SCV003935021 | pathogenic | Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome | 2023-06-21 | no assertion criteria provided | literature only |