ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.3176A>T (p.Asp1059Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
National Institute on Deafness and Communication Disorders,National Institutes of Health RCV001328017 SCV001519350 likely pathogenic Childhood onset hearing loss 2021-07-08 criteria provided, single submitter research PM2, PM3_moderate, PP1_supporting (0.73), 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.

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