ClinVar Miner

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

gnomAD frequency: 0.00947  dbSNP: rs114819374
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham 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).
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
Invitae RCV000515005 SCV001119968 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001102865 SCV001259557 uncertain significance Autosomal recessive nonsyndromic hearing loss 12 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001102866 SCV001259558 likely benign Usher syndrome type 1D 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000515005 SCV001881656 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000515005 SCV004126750 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing CDH23: BP4, BP7
Clinical Genetics, Academic Medical Center RCV000515005 SCV001922104 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000515005 SCV001968133 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV001831675 SCV002087547 benign Usher syndrome type 1 2019-12-03 no assertion criteria provided clinical testing

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