Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Otolaryngology – Head & Neck Surgery, |
RCV001375198 | SCV001571852 | uncertain significance | Hearing impairment | 2021-04-12 | criteria provided, single submitter | clinical testing | BP4_Supporting |
Gene |
RCV001581108 | SCV001818160 | uncertain significance | not provided | 2022-03-02 | criteria provided, single submitter | clinical testing | Identified in the heterozygous state without a second TECTA variant in a patient with hearing loss in published literature (Sloan-Heggen et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 26969326) |
Invitae | RCV001581108 | SCV002117957 | likely benign | not provided | 2023-11-27 | criteria provided, single submitter | clinical testing |