Submissions for variant NM_022124.6(CDH23):c.2290-13del

dbSNP: rs397517316

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039125	SCV000062807	benign	not specified	2014-10-02	criteria provided, single submitter	clinical testing	2290-13delT in intron 21 of CDH23: This variant is not expected to have clinical significance because it has been identified in 2.32% (90/3876) of African Ameri can chromosomes by the NHLBI Exome Sequencing Project and 2.5% (9/490) of Africa n and African American (ASW, LWK, YRI) chromosomes by the 1000 Genomes Project ( http://evs.gs.washington.edu/EVS/; dbSNP 202233569). In addition, a deletion of a T nucleotide at this position does not diverge from the splice consensus sequ ence and is therefore unlikely to impact splicing.
Illumina Laboratory Services, Illumina	RCV000338089	SCV000363633	uncertain significance	Retinitis pigmentosa-deafness syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000374020	SCV000363634	uncertain significance	Nonsyndromic Hearing Loss, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000279741	SCV000363635	uncertain significance	CDH23-Related Disorders	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001513575	SCV000571685	benign	not provided	2019-06-24	criteria provided, single submitter	clinical testing
Invitae	RCV001513575	SCV001721217	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing