Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
National Institute on Deafness and Communication Disorders, |
RCV001328014 | SCV001519347 | uncertain significance | Childhood onset hearing loss | 2021-07-08 | criteria provided, single submitter | research | PM1, PP3 (non REVEL) / 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 |
RCV001547959 | SCV001767791 | uncertain significance | not provided | 2022-09-01 | criteria provided, single submitter | clinical testing | Identified in one individual with hearing loss in published literature (Adeyemo et al., 2022); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34837038) |
Invitae | RCV001547959 | SCV002275415 | benign | not provided | 2023-06-17 | criteria provided, single submitter | clinical testing |