ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.4723G>A (p.Ala1575Thr)

gnomAD frequency: 0.73017  dbSNP: rs1227051
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Total submissions: 12
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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 RCV000039189 SCV000062873 benign not specified 2012-02-02 criteria provided, single submitter clinical testing Inferred frequency = 172/301
Preventiongenetics, part of Exact Sciences RCV000039189 SCV000313981 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000275255 SCV000363749 benign 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV001093952 SCV000363750 benign 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Mendelics RCV000328065 SCV001138076 benign Retinitis pigmentosa-deafness syndrome 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001516032 SCV001724235 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001093952 SCV001750276 benign Usher syndrome type 1D 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000275255 SCV001750277 benign Autosomal recessive nonsyndromic hearing loss 12 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001516032 SCV001891247 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272900 SCV001455324 benign Usher syndrome type 1 2020-09-16 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000039189 SCV001740990 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000039189 SCV001952320 benign not specified no assertion criteria provided clinical testing

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