ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.2416A>T (p.Thr806Ser) (rs778879572)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000340691 SCV000467501 uncertain significance Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617989 SCV000737713 uncertain significance Cardiovascular phenotype 2016-11-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Fulgent Genetics,Fulgent Genetics RCV000765942 SCV000897363 uncertain significance Short QT syndrome 1; Long QT syndrome 2 2018-10-31 criteria provided, single submitter clinical testing
Color RCV000777933 SCV000914030 likely benign Arrhythmia 2018-09-16 criteria provided, single submitter clinical testing
Invitae RCV000860564 SCV001000650 likely benign not provided 2019-02-20 criteria provided, single submitter clinical testing

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