Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000414836 | SCV000492589 | likely pathogenic | Craniosynostosis syndrome; Short stature; Sparse and thin eyebrow; Hyperextensible skin; High pitched voice; Mitral valve prolapse; Sparse hair | 2016-05-30 | no assertion criteria provided | clinical testing |