ClinVar Miner

Submissions for variant NM_000218.2(KCNQ1):c.720C>T (p.His240=) (rs28730754)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000756283 SCV000884048 benign not provided 2017-10-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000250450 SCV000318902 benign Cardiovascular phenotype 2016-06-17 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
Color RCV000771812 SCV000904515 benign Arrhythmia 2018-03-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000395472 SCV000370255 likely benign Jervell and Lange-Nielsen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000312089 SCV000370256 likely benign Familial atrial fibrillation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000204862 SCV000370257 likely benign Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000395487 SCV000370258 likely benign Romano-Ward syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000308709 SCV000370259 likely benign short QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000204862 SCV000259249 benign Long QT syndrome 2018-01-02 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035349 SCV000058997 benign not specified 2012-04-30 criteria provided, single submitter clinical testing His240His in Exon 05 of KCNQ1: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 1.1% (42/3728) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs28730754).

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