ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.6687C>T (p.Asp2229=)

gnomAD frequency: 0.00494  dbSNP: rs76463072
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Total submissions: 7
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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 RCV000039252 SCV000062936 benign not specified 2011-11-03 criteria provided, single submitter clinical testing Asp2229Asp in exon 48 of CDH23: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, it is not located ne ar a splice junction and has a frequency of 4% (19/467) in dbSNP (rs76463072).
GeneDx RCV000888828 SCV000532306 likely benign not provided 2021-04-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000888828 SCV001032482 benign not provided 2025-01-15 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000888828 SCV001143516 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001107336 SCV001264478 likely 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 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 RCV001107337 SCV001264479 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.
Natera, Inc. RCV001826578 SCV002093167 benign Usher syndrome type 1 2019-12-12 no assertion criteria provided clinical testing

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