Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001762405 | SCV001988695 | uncertain significance | not provided | 2020-10-16 | criteria provided, single submitter | clinical testing | Variant identified in a mother and son with nonsyndromic hearing loss (Naito et al., 2013); Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 23717403) |
Clin |
RCV000655882 | SCV000777811 | pathogenic | Autosomal dominant nonsyndromic hearing loss 2A | 2015-08-20 | no assertion criteria provided | literature only |