ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.7363-8C>A

dbSNP: rs2132971255
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV001808885 SCV002059104 uncertain significance Autosomal recessive nonsyndromic hearing loss 12 2022-01-03 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset (PM2_M). In silico tools do not predict the variant to alter splicing and produce an abnormal transcript (SPLICEAI:0.12<=0.2, BP4_P ) Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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