Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001766880 | SCV001989827 | uncertain significance | not provided | 2020-01-22 | criteria provided, single submitter | clinical testing | Observed in the heterozygous state in a patient with hearing loss in published literature (Huang et al., 2018); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 29605365) |