Submissions for variant NM_022124.6(CDH23):c.10036G>C (p.Glu3346Gln)

dbSNP: rs562525508

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000180037	SCV000232386	uncertain significance	not provided	2014-08-11	criteria provided, single submitter	clinical testing
Invitae	RCV000180037	SCV001698184	likely benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003937629	SCV004748468	likely benign	CDH23-related condition	2023-03-14	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
GenomeConnect, ClinGen	RCV000844911	SCV000986718	not provided	Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D		no assertion provided	phenotyping only	Variant interpretted as Uncertain significance and reported on 01/15/2018 by GTR ID Blueprint Genetics. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Natera, Inc.	RCV001833093	SCV002086931	benign	Usher syndrome type 1	2020-01-30	no assertion criteria provided	clinical testing