Submissions for variant NM_022124.6(CDH23):c.198G>A (p.Val66=)

gnomAD frequency: 0.00103  dbSNP: rs111033288

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039118	SCV000062800	benign	not specified	2015-07-05	criteria provided, single submitter	clinical testing	Val66Val 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 has been identified in 2.5% (415/16512) of South Asian chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs111033288).
Eurofins Ntd Llc (ga)	RCV000039118	SCV000331596	benign	not specified	2015-09-26	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000315724	SCV000363544	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.
GeneDx	RCV000954553	SCV000714466	benign	not provided	2019-04-18	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 12075507, 24416283)
Invitae	RCV000954553	SCV001101190	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000315724	SCV001716390	benign	Usher syndrome type 1D	2021-05-18	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000372580	SCV000363545	uncertain significance	Autosomal recessive nonsyndromic hearing loss 12	2018-01-12	flagged submission	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.	RCV001275411	SCV001460561	benign	Usher syndrome type 1	2020-04-15	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000039118	SCV001926013	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000039118	SCV001969839	benign	not specified		no assertion criteria provided	clinical testing