Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Medical Genetics and Applied Genomics, |
RCV005051227 | SCV005684982 | pathogenic | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | 2025-01-24 | criteria provided, single submitter | clinical testing |