ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.251A>G (p.Gln84Arg)

dbSNP: rs2117062555
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001730066 SCV001976871 uncertain significance Long QT syndrome 2 2021-10-06 criteria provided, single submitter clinical testing PM1, PM2, PP3

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