Submissions for variant NM_022124.6(CDH23):c.5130C>T (p.Ile1710=)

dbSNP: rs111033487

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039202	SCV000062886	benign	not specified	2012-08-24	criteria provided, single submitter	clinical testing	Ile1710Ile in exon 40 of CDH23: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence and has been identified in 0.4% (18/4212) of Afr ican American chromosomes from a broad population by the NHLBI Exome sequencing project (http://evs.gs.washington.edu/EVS/).
Invitae	RCV000968182	SCV001115619	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000968182	SCV001143512	benign	not provided	2018-11-12	criteria provided, single submitter	clinical testing
GeneDx	RCV000968182	SCV001855302	likely benign	not provided	2020-10-27	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002490536	SCV002796564	likely benign	Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types	2022-04-04	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000968182	SCV003799753	likely benign	not provided	2022-07-15	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000039202	SCV001920223	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000968182	SCV001964720	likely benign	not provided		no assertion criteria provided	clinical testing