ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2397+26T>C

gnomAD frequency: 0.62554  dbSNP: rs3752750
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251483 SCV000313971 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000829475 SCV000971205 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 RCV001533763 SCV001750558 benign Usher syndrome type 1D 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533764 SCV001750559 benign Autosomal recessive nonsyndromic hearing loss 12 2021-07-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000829475 SCV005321752 benign not provided criteria provided, single submitter not provided

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