ClinVar Miner

Submissions for variant NM_181798.1(KCNQ1):c.78G>A (p.Thr26=) (rs148121889)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617278 SCV000737449 likely benign Cardiovascular phenotype 2015-10-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000126447 SCV000055276 likely benign not provided 2013-06-24 criteria provided, single submitter research
Color RCV000771166 SCV000903050 likely benign Arrhythmia 2018-03-08 criteria provided, single submitter clinical testing
GeneDx RCV000180989 SCV000169954 benign not specified 2015-04-17 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 RCV000331279 SCV000370225 likely benign short QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000226452 SCV000370226 likely benign Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000291516 SCV000370227 likely benign Familial atrial fibrillation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000327774 SCV000370228 likely benign Jervell and Lange-Nielsen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000382303 SCV000370229 likely benign Romano-Ward syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000226452 SCV000283882 benign Long QT syndrome 2018-01-09 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000180989 SCV000270314 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing p.Thr153Thr in Exon 02 of KCNQ1: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 0.3% (18/7020) of E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs148121889).

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