ClinVar Miner

Submissions for variant NM_000890.5(KCNJ5):c.1159G>C (p.Gly387Arg) (rs199830292)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000009405 SCV000267375 likely pathogenic Long QT syndrome 13 2016-03-18 criteria provided, single submitter reference population
Illumina Clinical Services Laboratory,Illumina RCV000312115 SCV000368951 likely benign Familial hyperaldosteronism 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000366743 SCV000368952 likely benign Romano-Ward syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000865749 SCV001006764 likely benign not provided 2018-09-14 criteria provided, single submitter clinical testing
OMIM RCV000009405 SCV000029623 pathogenic Long QT syndrome 13 2014-03-25 no assertion criteria provided literature only
GeneReviews RCV000193019 SCV000243881 pathogenic Andersen Tawil syndrome 2015-08-06 no assertion criteria provided literature only

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