ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.4051A>G (p.Asn1351Asp)

gnomAD frequency: 0.79969  dbSNP: rs1227065
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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 RCV000039171 SCV000062855 benign not specified 2012-02-02 criteria provided, single submitter clinical testing Inferred frequency = 196/301
Eurofins Ntd Llc (ga) RCV000039171 SCV000114027 benign not specified 2013-09-20 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000039171 SCV000313976 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000345614 SCV000363722 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 RCV001094003 SCV000363723 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 RCV000397439 SCV001138075 benign Retinitis pigmentosa-deafness syndrome 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001516031 SCV001724234 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001094003 SCV001750264 benign Usher syndrome type 1D 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000345614 SCV001750265 benign Autosomal recessive nonsyndromic hearing loss 12 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001516031 SCV001839013 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272892 SCV001455316 benign Usher syndrome type 1 2020-09-16 no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000039171 SCV001953494 benign not specified no assertion criteria provided clinical testing

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