Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Precision Medicine Center, |
RCV001375685 | SCV001572606 | pathogenic | Autosomal recessive nonsyndromic hearing loss 4 | no assertion criteria provided | research | PM2: not found in gnomAD PM3_VeryStrong: Pathogenic mutation confirmed in trans in one patient and phase unknown in seven patients PP4: Patient's phenotype highly specific for gene |