Submissions for variant NM_022124.6(CDH23):c.1449+130T>C

gnomAD frequency: 0.14152  dbSNP: rs2305209

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039103	SCV000062785	benign	not specified	2012-04-17	criteria provided, single submitter	clinical testing	Leu527Leu in exon 14A of CDH23: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, it is not located wi th the splice consensus sequence, and has been identified in 1376/8220 (16.8%) E uropean American chromosomes and 423/3790 (11.2%) African American chromosomes b y the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu; dbSNP rs2305 209).
GeneDx	RCV000039103	SCV000731164	benign	not specified	2017-06-01	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.
Genome-Nilou Lab	RCV001533644	SCV001750371	benign	Usher syndrome type 1D	2021-07-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001533645	SCV001750372	benign	Autosomal recessive nonsyndromic hearing loss 12	2021-07-01	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002490533	SCV002796196	benign	Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types	2021-12-22	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004717934	SCV005321730	benign	not provided		criteria provided, single submitter	not provided