ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.4206+131T>C

gnomAD frequency: 0.77987  dbSNP: rs1227061
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000838378 SCV000980244 benign not provided 2018-06-14 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 RCV001554728 SCV001776025 benign Autosomal recessive nonsyndromic hearing loss 12 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554729 SCV001776026 benign Usher syndrome type 1D 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554730 SCV001776027 benign Pituitary adenoma 5, multiple types 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000838378 SCV005321772 benign not provided criteria provided, single submitter not provided

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