ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.1467C>T (p.Ile489=) (rs740952)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000248884 SCV000303110 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000247572 SCV000317510 benign Cardiovascular phenotype 2015-03-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance,Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene
Illumina Clinical Services Laboratory,Illumina RCV000350054 SCV000467524 likely benign Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755288 SCV000604060 benign not provided 2017-05-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000248884 SCV000711391 benign not specified 2016-12-27 criteria provided, single submitter clinical testing Ile489Ile in exon 6 of KCNH2: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 26.3% (1158/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs740952).
Color RCV000775989 SCV000910515 benign Arrhythmia 2018-03-16 criteria provided, single submitter clinical testing

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