Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000826000 | SCV000967488 | uncertain significance | not specified | 2019-01-16 | criteria provided, single submitter | clinical testing | The p.Ser267Leu variant in OTOG has not been previously reported in individuals with hearing loss but has been identified in 0.006% (1/15428) of European chromo somes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction too ls and conservation analysis do not provide strong support for or against an imp act to the protein. In summary, the clinical significance of this variant is unc ertain. ACMG/AMP Criteria applied: PM2. |