Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
National Institute on Deafness and Communication Disorders, |
RCV001328011 | SCV001519344 | uncertain significance | Childhood onset hearing loss | 2021-07-08 | criteria provided, single submitter | research | PM1, PM2, PP3 / Modifications from PMID: 30311386 for classification: The genetic causes of hearing loss have not yet been well characterized in the Yoruba population, and the information regarding variant MAF in this population is still limited, so we did not exclude any variant based on their "high" MAF. PP3 criteria was applied even if the REVEL score was below 0.7, if at least two of the pathogenicity prediction algorithms used predicted that the variant was damaging or likely damaging. |
Gene |
RCV001539883 | SCV001757706 | likely pathogenic | not provided | 2020-07-09 | criteria provided, single submitter | clinical testing | Observed in two unrelated patients with hearing loss in published literature (Rehman et al., 2016; Miyagawa et al., 2013); however, additional information was not provided; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 23967202, 27375115) |