Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000012446 | SCV002026390 | likely pathogenic | X-linked mixed hearing loss with perilymphatic gusher | 2022-05-13 | criteria provided, single submitter | clinical testing | This variant was identified as hemizygous. It was maternally inherited and also identified in the similarly affected brother. Criteria applied: PM1, PS4_SUP, PM2_SUP, PP1, PP3 |
OMIM | RCV000012446 | SCV000032680 | pathogenic | X-linked mixed hearing loss with perilymphatic gusher | 1995-02-03 | no assertion criteria provided | literature only |