Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Rare Diseases, |
RCV005052908 | SCV005686964 | likely pathogenic | Autosomal recessive nonsyndromic hearing loss 3 | 2025-01-09 | criteria provided, single submitter | research | PVS1;PM2_Supporting |