ClinVar Miner

Submissions for variant NM_000891.2(KCNJ2):c.531C>T (p.Gly177=) (rs544384907)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000277106 SCV000405994 likely benign Andersen Tawil syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000297116 SCV000405995 likely benign Familial atrial fibrillation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000354080 SCV000405996 likely benign short QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000533744 SCV000645189 benign Andersen Tawil syndrome; Short QT syndrome 3 2017-12-29 criteria provided, single submitter clinical testing

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