ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.7722C>T (p.Tyr2574=)

gnomAD frequency: 0.00295  dbSNP: rs111033483
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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 RCV000039273 SCV000062957 benign not specified 2012-04-17 criteria provided, single submitter clinical testing Tyr2574Tyr in exon 55 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 0.4% (28/6796) of Eur opean American chromosomes in a broad population by the NHLBI Exome sequencing p roject (http://evs.gs.washington.edu/EVS/; dbSNP rs111033483).
Illumina Laboratory Services, Illumina RCV000378798 SCV000363880 uncertain significance Usher syndrome type 1D 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Laboratory Services, Illumina RCV000286793 SCV000363881 uncertain significance Autosomal recessive nonsyndromic hearing loss 12 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV000879301 SCV000714490 benign not provided 2019-05-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28912962, 22135276)
Invitae RCV000879301 SCV001022323 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000879301 SCV001143519 benign not provided 2019-03-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000879301 SCV004126751 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing CDH23: BP4, BP7, BS2
Clinical Genetics, Academic Medical Center RCV000039273 SCV001925568 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000879301 SCV001975461 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV001831676 SCV002087614 benign Usher syndrome type 1 2019-10-21 no assertion criteria provided clinical testing

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