Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Juno Genomics, |
RCV004795675 | SCV005417210 | uncertain significance | Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 | criteria provided, single submitter | clinical testing | PM2_Supporting+PVS1_Strong | |
Fulgent Genetics, |
RCV004795675 | SCV005629484 | likely pathogenic | Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 | 2024-03-08 | criteria provided, single submitter | clinical testing |