Submissions for variant NM_022124.6(CDH23):c.8859C>T (p.Asp2953=)

gnomAD frequency: 0.00028  dbSNP: rs11000008

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039293	SCV000062977	benign	not specified	2015-04-17	criteria provided, single submitter	clinical testing	p.Asp2953Asp in exon 61 of CDH23: This variant is not expected to have clinical significance because has been identified in 1.3% (111/8568) of East Asian chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs11000008).
GeneDx	RCV000899993	SCV000727792	likely benign	not provided	2021-10-11	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 17850630)
Invitae	RCV000899993	SCV001044290	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001106039	SCV001263063	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). 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	RCV001106040	SCV001263064	likely 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CeGaT Center for Human Genetics Tuebingen	RCV000899993	SCV004126755	likely benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	CDH23: BP4, BP7, BS1
Natera, Inc.	RCV001831678	SCV002091999	likely benign	Usher syndrome type 1	2019-12-06	no assertion criteria provided	clinical testing