ClinVar Miner

Submissions for variant NM_001743.6(CALM2):c.293A>T (p.Asn98Ile) (rs398124647)

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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 RCV000143837 SCV000114925 probable-pathogenic Long QT syndrome 1 no assertion criteria provided not provided Converted during submission to Likely pathogenic.
OMIM RCV000162068 SCV000212101 pathogenic Long QT syndrome 15 2014-08-01 no assertion criteria provided literature only

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