ClinVar Miner

Submissions for variant NM_004700.4(KCNQ4):c.1365T>G (p.His455Gln) (rs34287852)

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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 RCV000038243 SCV000061911 benign not specified 2012-05-07 criteria provided, single submitter clinical testing His455Gln in Exon 10 of KCNQ4: This variant is not expected to have clinical sig nificance because it has been identified in 24.0% (1685/7018) of European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs34287852).
PreventionGenetics,PreventionGenetics RCV000038243 SCV000310605 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000038243 SCV000730553 benign not specified 2017-08-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001541 SCV001158869 benign Autosomal dominant nonsyndromic hearing loss 2A 2018-08-27 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001001541 SCV001980915 benign Autosomal dominant nonsyndromic hearing loss 2A 2021-08-19 criteria provided, single submitter clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000038243 SCV001959094 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000038243 SCV001972884 benign not specified no assertion criteria provided clinical testing

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