ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.9058_9060del (p.Arg3020del)

dbSNP: rs786205612
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre RCV000171457 SCV000221656 likely pathogenic not provided criteria provided, single submitter research
Invitae RCV000171457 SCV003439545 uncertain significance not provided 2022-06-14 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 191267). This variant has not been reported in the literature in individuals affected with CDH23-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.9058_9060del, results in the deletion of 1 amino acid(s) of the CDH23 protein (p.Arg3020del), but otherwise preserves the integrity of the reading frame.

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