Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Juno Genomics, |
RCV004797132 | SCV005418157 | likely pathogenic | Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome | criteria provided, single submitter | clinical testing | PM2_Supporting+PVS1_Strong+PP4 |