Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001751743 | SCV001986206 | uncertain significance | not provided | 2019-04-02 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 22412181, 29921053, 28717060, 24612839, 30896630) |
Precision Medicine Center, |
RCV001375684 | SCV001572605 | pathogenic | Autosomal recessive nonsyndromic hearing loss 4 | no assertion criteria provided | research | PM2: not found in gnomAD PM3_VeryStrong: Pathogenic mutation confirmed in trans in three patients and phase unknown in five patients PP3: REVEL score >0.7 PP4: Patient's phenotype highly specific for gene | |
Deafness Molecular Diagnostic Center, |
RCV001375684 | SCV001949947 | pathogenic | Autosomal recessive nonsyndromic hearing loss 4 | no assertion criteria provided | case-control |