Submissions for variant NM_022124.6(CDH23):c.3664G>A (p.Ala1222Thr)

gnomAD frequency: 0.02047  dbSNP: rs41281316

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039161	SCV000062845	benign	not specified	2009-06-12	criteria provided, single submitter	clinical testing
GeneDx	RCV000039161	SCV000167607	benign	not specified	2013-09-23	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, part of Exact Sciences	RCV000039161	SCV000313974	benign	not specified		criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000991775	SCV001143509	benign	not provided	2018-10-12	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001108866	SCV001266151	benign	Usher syndrome type 1D	2017-04-27	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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV001108867	SCV001266152	likely benign	Autosomal recessive nonsyndromic hearing loss 12	2017-04-27	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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000991775	SCV001723875	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001108866	SCV001750572	benign	Usher syndrome type 1D	2021-07-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001108867	SCV001750573	benign	Autosomal recessive nonsyndromic hearing loss 12	2021-07-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000991775	SCV004562967	benign	not provided	2023-10-09	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000991775	SCV005228200	likely benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV001272888	SCV001455312	benign	Usher syndrome type 1	2020-09-16	no assertion criteria provided	clinical testing