ClinVar Miner

Submissions for variant NM_181798.1(KCNQ1):c.1013-14C>T (rs28730758)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000771087 SCV000902640 benign Arrhythmia 2018-03-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000358014 SCV000370326 likely benign Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000265135 SCV000370327 likely benign Familial atrial fibrillation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000317977 SCV000370328 likely benign Jervell and Lange-Nielsen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000374940 SCV000370329 likely benign short QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000259662 SCV000370330 likely benign Romano-Ward syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035340 SCV000058988 benign not specified 2012-04-30 criteria provided, single submitter clinical testing 1394-14C>T in Intron 10 of KCNQ1: This variant is not expected to have clinical significance because it has been identified in 1.5% (106/7020) of European Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS; dbSNP rs28730758).
PreventionGenetics RCV000035340 SCV000303043 benign not specified criteria provided, single submitter clinical testing

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