ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.1563C>T (p.Ile521=) (rs143011005)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000179737 SCV000232033 uncertain significance not provided 2015-02-11 criteria provided, single submitter clinical testing
Invitae RCV000229884 SCV000283963 benign Long QT syndrome 2018-01-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000251581 SCV000318702 likely benign Cardiovascular phenotype 2015-03-25 criteria provided, single submitter clinical testing
Color RCV000776078 SCV000910814 benign Arrhythmia 2018-03-08 criteria provided, single submitter clinical testing

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