Submissions for variant NM_022124.6(CDH23):c.6648C>T (p.Ala2216=)

gnomAD frequency: 0.00124  dbSNP: rs186394654

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039251	SCV000062935	likely benign	not specified	2017-04-25	criteria provided, single submitter	clinical testing	p.Ala2216Ala in exon 48 of CDH23: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, has been identified in 0.2% (259/125932) of E uropean chromosomes by the Genome Aggregation Consortium (http://gnomad.broadins titute.org; dbSNP rs186394654), and is reported as benign in one publication (Os hima 2008).
CeGaT Center for Human Genetics Tuebingen	RCV000488048	SCV000574846	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	CDH23: BP4, BP7
Eurofins Ntd Llc (ga)	RCV000488048	SCV000862548	uncertain significance	not provided	2018-08-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000488048	SCV001105908	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001104587	SCV001261464	uncertain significance	Autosomal recessive nonsyndromic hearing loss 12	2018-06-19	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina	RCV001107333	SCV001264475	uncertain significance	Usher syndrome type 1D	2018-06-19	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Natera, Inc.	RCV001275577	SCV001460826	likely benign	Usher syndrome type 1	2020-04-17	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000488048	SCV001918635	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000488048	SCV001967891	likely benign	not provided		no assertion criteria provided	clinical testing