ClinVar Miner

Submissions for variant NM_001743.6(CALM2):c.400G>C (p.Asp134His) (rs398124650)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
George Lab Vanderbilt University RCV000143839 SCV000114927 probable-pathogenic Long QT syndrome 1 no assertion criteria provided not provided Converted during submission to Likely pathogenic.
OMIM RCV000162066 SCV000212099 pathogenic Long QT syndrome 15 2014-08-01 no assertion criteria provided literature only

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