ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.2474C>T (p.Thr825Ile)

dbSNP: rs786205420
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000171593 SCV000055186 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Medical Research Institute, Tokyo Medical and Dental University RCV000190218 SCV000222069 likely pathogenic Long QT syndrome no assertion criteria provided research

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