Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomic Medicine, |
RCV003990681 | SCV004807560 | likely pathogenic | Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome | 2024-03-29 | criteria provided, single submitter | clinical testing |