ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.204C>T (p.Gly68=)

gnomAD frequency: 0.01418  dbSNP: rs116624130
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Total submissions: 8
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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 RCV000039120 SCV000062802 benign not specified 2011-10-05 criteria provided, single submitter clinical testing Gly68Gly in exon 4 of CDH23: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue, is not located near a s plice junction and is listed in dbSNP with a frequency of 9.6% (23/239) control chromosomes (rs116624130).
PreventionGenetics, part of Exact Sciences RCV000039120 SCV000313966 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000261646 SCV000363546 likely benign 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina RCV000319252 SCV000363547 benign 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 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000891461 SCV001035280 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV000891461 SCV001883901 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000891461 SCV005228169 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001276798 SCV001463347 benign Usher syndrome type 1 2020-09-16 no assertion criteria provided clinical testing

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