ClinVar Miner

Submissions for variant NM_181798.1(KCNQ1):c.1605C>T (p.Tyr535=) (rs11601907)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757421 SCV000885633 benign not provided 2017-05-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000245782 SCV000317418 benign Cardiovascular phenotype 2015-02-19 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,Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene
Color RCV000771050 SCV000902555 benign Arrhythmia 2018-03-16 criteria provided, single submitter clinical testing
GeneDx RCV000035345 SCV000169950 benign not specified 2011-07-10 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.
Illumina Clinical Services Laboratory,Illumina RCV000356002 SCV000370409 benign Romano-Ward syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000275123 SCV000370410 benign short QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000330439 SCV000370411 benign Familial atrial fibrillation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000389609 SCV000370412 benign Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000276443 SCV000370413 benign Jervell and Lange-Nielsen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035345 SCV000058993 benign not specified 2012-05-07 criteria provided, single submitter clinical testing "Tyr662Tyr in Exon 16 of KCNQ1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 23.6% (1636/6932) of European American chromosomes from a broad population by the NHLBI Exome Sequen cing Project (http://evs.gs.washington.edu/EVS; dbSNP rs11601907)."
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000757421 SCV000987406 benign not provided criteria provided, single submitter clinical testing
PreventionGenetics RCV000035345 SCV000303046 benign not specified criteria provided, single submitter clinical testing

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