ClinVar Miner

Submissions for variant NM_000890.5(KCNJ5):c.864G>T (p.Glu288Asp)

gnomAD frequency: 0.00002  dbSNP: rs771919907
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV000678924 SCV000805131 uncertain significance Long QT syndrome 13 2017-12-20 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852661 SCV000995367 likely benign Hypertrophic cardiomyopathy 2019-02-05 criteria provided, single submitter clinical testing

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