ClinVar Miner

Submissions for variant NM_181798.1(KCNQ1):c.1494C>T (p.Pro498=) (rs112113213)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000253803 SCV000319999 likely benign Cardiovascular phenotype 2015-07-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000341550 SCV000333396 uncertain significance not provided 2015-07-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000396200 SCV000370381 likely benign short QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000313609 SCV000370382 likely benign Jervell and Lange-Nielsen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000231907 SCV000370383 likely benign Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000396204 SCV000370384 likely benign Romano-Ward syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000309382 SCV000370385 likely benign Familial atrial fibrillation 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000231907 SCV000283878 likely benign Long QT syndrome 2018-01-15 criteria provided, single submitter clinical testing

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