Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001885012 | SCV002163951 | pathogenic | not provided | 2021-06-05 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with TRMU-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg154Thrfs*19) in the TRMU gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TRMU are known to be pathogenic (PMID: 19732863, 23625533). |
Baylor Genetics | RCV003475147 | SCV004204408 | likely pathogenic | Aminoglycoside-induced deafness | 2022-02-10 | criteria provided, single submitter | clinical testing |