ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.1128+1869C>T

gnomAD frequency: 0.00004  dbSNP: rs62492438
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000861582 SCV001001946 likely benign Long QT syndrome 2020-06-20 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001842020 SCV001356812 likely benign Cardiac arrhythmia 2018-11-16 criteria provided, single submitter clinical testing
GeneDx RCV002279567 SCV002567374 uncertain significance not provided 2022-06-16 criteria provided, single submitter clinical testing Identified in two individuals with phenotype of unspecified arrhythmia in the literature (PMID: 30847666); In silico analysis supports that this variant does not alter splicing; This variant is associated with the following publications: (PMID: 30847666)

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