ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.2133-4C>T (rs181119727)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000468009 SCV000555889 benign Long QT syndrome 2017-12-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618315 SCV000737401 likely benign Cardiovascular phenotype 2016-10-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
Athena Diagnostics Inc RCV000712078 SCV000842493 benign not provided 2017-11-03 criteria provided, single submitter clinical testing

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