Submissions for variant NM_004700.4(KCNQ4):c.708+14G>C

gnomAD frequency: 0.66283  dbSNP: rs2361660

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038246	SCV000061914	benign	not specified	2012-05-07	criteria provided, single submitter	clinical testing	708+14G>C in Intron 04 of KCNQ4: This variant is not expected to have clinical s ignificance because it is not located within the conserved splice consensus sequ ence and has been identified in 39.7% (1449/3654) of African American chromosome s from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.w ashington.edu/EVS; dbSNP rs2361660).
PreventionGenetics, part of Exact Sciences	RCV000038246	SCV000310611	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV001618230	SCV001843693	benign	not provided	2018-06-24	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000606323	SCV001980913	benign	Autosomal dominant nonsyndromic hearing loss 2A	2021-08-19	criteria provided, single submitter	clinical testing
Invitae	RCV001618230	SCV002484490	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000606323	SCV000734028	benign	Autosomal dominant nonsyndromic hearing loss 2A		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000038246	SCV001956012	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000038246	SCV001966439	benign	not specified		no assertion criteria provided	clinical testing