Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001794461 | SCV002032547 | uncertain significance | not provided | 2021-06-07 | criteria provided, single submitter | clinical testing | Identified in a patient with sensorineural hearing loss, however, family history and segregation information were not provided (Hildebrand et al., 2008); Not observed at significant frequency 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: 26036578, 27535533, 18941426, 31995783) |
Clin |
RCV000655886 | SCV000777815 | pathogenic | Autosomal dominant nonsyndromic hearing loss 2A | 2015-08-20 | no assertion criteria provided | literature only |