Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Precision Medicine Center, |
RCV001375690 | SCV001572611 | pathogenic | Autosomal recessive nonsyndromic hearing loss 4 | no assertion criteria provided | research | PVS1: Null variant in the gene with established LOF as a disease mechanism PP1: Segregation in one affected relative PM2: not found in gnomAD PM3_Strong: Pathogenic mutation phase known in two patients PP4: Patient's phenotype highly specific for gene |