ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.1394T>C (p.Val465Ala)

dbSNP: rs1057518876
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415129 SCV000492808 uncertain significance Cardiac arrhythmia; Hypertrophic cardiomyopathy 2014-01-08 criteria provided, single submitter clinical testing

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