ClinVar Miner

Submissions for variant NM_004700.4(KCNQ4):c.708+14G>C (rs2361660)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare 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,PreventionGenetics 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
Nilou-Genome Lab RCV000606323 SCV001980913 benign Autosomal dominant nonsyndromic hearing loss 2A 2021-08-19 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
Human Genetics - Radboudumc,Radboudumc 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

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