ClinVar Miner

Submissions for variant NM_181798.1(KCNQ1):c.96+9C>T (rs28730664)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000287919 SCV000370230 likely benign Romano-Ward syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000342464 SCV000370231 likely benign short QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000398061 SCV000370232 likely benign Jervell and Lange-Nielsen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000284036 SCV000370233 likely benign Familial atrial fibrillation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000203907 SCV000370234 likely benign Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000203907 SCV000262035 benign Long QT syndrome 2018-01-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150865 SCV000198424 benign not specified 2012-05-07 criteria provided, single submitter clinical testing 477+9C>T in Intron 02 of KCNQ1: This variant is not expected to have clinical si gnificance because it is not located within the conserved splice consensus seque nce and has been identified in 3.6% (135/3738) of African American chromosomes f rom a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.wash ington.edu/EVS; dbSNP rs28730664).
PreventionGenetics RCV000150865 SCV000303047 benign not specified criteria provided, single submitter clinical testing

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