ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5187+73C>T

dbSNP: rs10823843
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000836109 SCV000977939 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 RCV001533651 SCV001750388 benign Usher syndrome type 1D 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533652 SCV001750389 benign Autosomal recessive nonsyndromic hearing loss 12 2021-07-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000836109 SCV005321803 benign not provided criteria provided, single submitter not provided

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