Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Otolaryngology – Head & Neck Surgery, |
RCV001375224 | SCV001571974 | uncertain significance | Hearing impairment | 2021-04-12 | criteria provided, single submitter | clinical testing | PM2_Moderate, PM3_Supporting, PM4_Moderate; PM2_Moderate, PM3_Supporting, PM4_Moderate |
The Raphael Recanati Genetics Institute, |
RCV000754790 | SCV000882672 | likely pathogenic | Autosomal recessive nonsyndromic hearing loss 15 | 2018-09-13 | no assertion criteria provided | clinical testing |