ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.7630T>C (p.Leu2544=) (rs114819374)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000515005 SCV000609731 likely benign not provided 2017-04-11 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039272 SCV000062956 benign not specified 2012-02-08 criteria provided, single submitter clinical testing Leu2544Leu in exon 54 of CDH23: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 2.5% (82/3230) of Af rican American chromosomes and 0.14% (10/6716) of European American chromosomes from a broad, though clinically unspecified population (NHLBI Exome Sequencing P roject; http://evs.gs.washington.edu/EVS, dbSNP rs114819374).

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