ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.1257_1260del (p.Lys421fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796455 SCV005418933 likely pathogenic Atrial fibrillation, familial, 3; Long QT syndrome 1; Jervell and Lange-Nielsen syndrome 1; Short QT syndrome type 2 criteria provided, single submitter clinical testing PVS1+PM2_Supporting

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