Submissions for variant NM_022124.6(CDH23):c.6918G>A (p.Leu2306=)

gnomAD frequency: 0.00063  dbSNP: rs146819206

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039258	SCV000062942	benign	not specified	2015-12-17	criteria provided, single submitter	clinical testing	p.Leu2306Leu in exon 51 of CDH23: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located nea r a splice junction, has been identified in 1.8% (311/16512) of South Asian chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs146819206).
Eurofins Ntd Llc (ga)	RCV000039258	SCV000337490	benign	not specified	2015-11-25	criteria provided, single submitter	clinical testing
GeneDx	RCV000881386	SCV000522888	benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 18429043, 12075507)
Invitae	RCV000881386	SCV001024557	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001107989	SCV001265181	uncertain significance	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. 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.
Illumina Laboratory Services, Illumina	RCV001108605	SCV001265865	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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Genome-Nilou Lab	RCV001108605	SCV001653382	likely benign	Usher syndrome type 1D	2021-05-18	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000881386	SCV003799601	benign	not provided	2022-10-20	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000039258	SCV001925327	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000039258	SCV001971829	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001831672	SCV002093245	likely benign	Usher syndrome type 1	2019-12-03	no assertion criteria provided	clinical testing