ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu)

gnomAD frequency: 0.04021  dbSNP: rs45583140
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Total submissions: 18
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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 RCV000039308 SCV000062992 benign not specified 2009-06-12 criteria provided, single submitter clinical testing
GeneDx RCV000039308 SCV000167629 benign not specified 2013-05-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics,PreventionGenetics RCV000039308 SCV000314004 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000363966 SCV000363937 likely benign Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000271717 SCV000363938 likely benign Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000356182 SCV000483079 benign Metachromatic leukodystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000261040 SCV000483080 benign Encephalopathy due to prosaposin deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000316294 SCV000483081 benign Galactosylceramide beta-galactosidase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000389375 SCV000483082 benign Atypical Gaucher Disease 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000086979 SCV000883551 benign not provided 2021-11-11 criteria provided, single submitter clinical testing
Mendelics RCV000363966 SCV001138083 benign Retinitis pigmentosa-deafness syndrome 2019-05-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV001105085 SCV001262003 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 RCV001105086 SCV001262004 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.
Invitae RCV000086979 SCV001726548 benign not provided 2021-12-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001105086 SCV001750281 benign Usher syndrome type 1D 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001105085 SCV001750282 benign Autosomal recessive nonsyndromic hearing loss 12 2021-07-01 criteria provided, single submitter clinical testing
NEI Ophthalmic Genomics Laboratory,National Institutes of Health RCV000086979 SCV000119232 not provided not provided no assertion provided not provided
Natera, Inc. RCV001276927 SCV001463584 benign Usher syndrome type 1 2020-09-16 no assertion criteria provided clinical testing

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