ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.743T>G (p.Leu248Arg)

dbSNP: rs1801446711
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002052122 SCV002318591 uncertain significance Long QT syndrome 2 2022-03-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. A missense variant is a common mechanism. Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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