ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.1753-43T>C

gnomAD frequency: 0.92381  dbSNP: rs1227042
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000252682 SCV000313965 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000829474 SCV000971204 benign not provided 2018-06-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001533695 SCV001750463 benign Usher syndrome type 1D 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533696 SCV001750464 benign Autosomal recessive nonsyndromic hearing loss 12 2021-07-01 criteria provided, single submitter clinical testing

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