ClinVar Miner

Submissions for variant NM_000218.2(KCNQ1):c.435C>T (p.Ile145=) (rs1800170)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000244395 SCV000317515 benign Cardiovascular phenotype 2015-04-21 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 RCV000771108 SCV000902778 benign Arrhythmia 2018-06-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000357067 SCV000370220 likely benign Jervell and Lange-Nielsen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000262280 SCV000370221 likely benign Familial atrial fibrillation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000205669 SCV000370222 likely benign Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000370718 SCV000370223 likely benign Romano-Ward syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000276186 SCV000370224 likely benign short QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000205669 SCV000262495 benign Long QT syndrome 2018-01-15 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150863 SCV000198422 benign not specified 2012-05-07 criteria provided, single submitter clinical testing "Ile145Ile in Exon 02 of KCNQ1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 4.2% (5/120) of chro mosomes from a population in the dbSNP database (http://www.ncbi.nlm.nih.gov/pro jects/SNP; rs1800170)."

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