ClinVar Miner

Submissions for variant NM_181798.1(KCNQ1):c.1209+14T>C (rs11024034)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000035342 SCV000169944 benign not specified 2012-06-14 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 RCV000283709 SCV000370356 likely benign short QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000343301 SCV000370357 likely benign Romano-Ward syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000405757 SCV000370358 likely benign Jervell and Lange-Nielsen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000298782 SCV000370359 likely benign Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000335028 SCV000370360 likely benign Familial atrial fibrillation 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030108 SCV000052763 benign Cardiac arrhythmia 2011-08-18 criteria provided, single submitter clinical testing Converted during submission to Benign.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035342 SCV000058990 benign not specified 2012-05-07 criteria provided, single submitter clinical testing 1590+14T>C in Intron 12 of KCNQ1: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus seq uence and has been identified in 11.5% (806/7020) of European American chromosom es from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs. washington.edu/EVS; dbSNP rs11024034).
PreventionGenetics RCV000035342 SCV000303044 benign not specified criteria provided, single submitter clinical testing

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