ClinVar Miner

Submissions for variant NM_181798.1(KCNQ1):c.1561G>A (p.Val521Ile) (rs34150427)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622132 SCV000737386 benign Cardiovascular phenotype 2016-02-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000057651 SCV000089170 not provided not provided no assertion provided literature only This variant has been reported in the following publications (PMID:14661677;PMID:19841300).
Color RCV000771797 SCV000904493 benign Arrhythmia 2018-03-19 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000216406 SCV000338593 benign not specified 2016-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000316585 SCV000370391 likely benign Jervell and Lange-Nielsen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000375847 SCV000370392 likely benign Familial atrial fibrillation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000281357 SCV000370393 likely benign short QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000229585 SCV000370394 likely benign Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000386352 SCV000370395 likely benign Romano-Ward syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030110 SCV000052765 benign Cardiac arrhythmia 2013-02-18 no assertion criteria provided clinical testing
Invitae RCV000229585 SCV000283880 benign Long QT syndrome 2018-01-26 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000216406 SCV000269196 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Val648Ile in Exon 16 of KCNQ1: This variant is not expected to have clinical sig nificance because it has been identified in 1.7% (60/3612) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs34150427).

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