ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.10026C>T (p.Asp3342=)

gnomAD frequency: 0.00185  dbSNP: rs377118941
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Total submissions: 14
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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 RCV000155061 SCV000204745 likely benign not specified 2013-06-25 criteria provided, single submitter clinical testing Asp3342Asp in Exon 70 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% (18/4172) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS).
Eurofins NTD LLC (GA) RCV000155061 SCV000339964 benign not specified 2016-04-07 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000290748 SCV000363964 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000345678 SCV000363965 uncertain significance Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000381558 SCV000363966 uncertain significance CDH23-Related Disorders 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000308301 SCV000483135 likely benign Encephalopathy due to prosaposin deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000360078 SCV000483136 likely benign Metachromatic leukodystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000395744 SCV000483137 likely benign Galactosylceramide beta-galactosidase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000301703 SCV000483138 likely benign Atypical Gaucher Disease 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000902585 SCV001047013 benign not provided 2020-12-02 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV001108527 SCV001265769 uncertain significance Usher syndrome type 1D 2018-01-12 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 RCV001108528 SCV001265770 uncertain significance Autosomal recessive nonsyndromic hearing loss 12 2018-01-12 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 RCV000902585 SCV001804282 likely benign not provided 2020-03-24 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28912962)
Natera, Inc. RCV001826835 SCV002086919 likely benign Usher syndrome type 1 2019-10-23 no assertion criteria provided clinical testing

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