ClinVar Miner

Submissions for variant NM_000219.6(KCNE1):c.54G>A (p.Gln18=) (rs149875299)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620907 SCV000737537 likely benign Cardiovascular phenotype 2016-05-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Illumina Clinical Services Laboratory,Illumina RCV000353483 SCV000435794 uncertain significance Jervell and Lange-Nielsen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000268131 SCV000435795 uncertain significance Romano-Ward syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000304677 SCV000435796 uncertain significance Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing

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