ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.1449+130T>C (rs2305209)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000039103 SCV000731164 benign not specified 2017-06-01 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039103 SCV000062785 benign not specified 2012-04-17 criteria provided, single submitter clinical testing Leu527Leu in exon 14A of CDH23: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, it is not located wi th the splice consensus sequence, and has been identified in 1376/8220 (16.8%) E uropean American chromosomes and 423/3790 (11.2%) African American chromosomes b y the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu; dbSNP rs2305 209).

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