ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.75923C>T (p.Pro25308Leu)

gnomAD frequency: 0.00001  dbSNP: rs776006935
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852502 SCV000995198 uncertain significance Long QT syndrome 2017-02-28 criteria provided, single submitter clinical testing

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