ClinVar Miner

Submissions for variant NM_001743.6(CALM2):c.396T>G (p.Asp132Glu) (rs398124648)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
George Lab Vanderbilt University RCV000143838 SCV000114926 probable-pathogenic Long QT syndrome 1 no assertion criteria provided not provided Converted during submission to Likely pathogenic.
OMIM RCV000162069 SCV000212102 pathogenic Long QT syndrome 15 2014-08-01 no assertion criteria provided literature only
Institute of Human Genetics, Klinikum rechts der Isar RCV000162069 SCV001150036 pathogenic Long QT syndrome 15 2018-08-20 no assertion criteria provided clinical testing

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