ClinVar Miner

Submissions for variant NM_181798.1(KCNQ1):c.97-10G>A (rs28730752)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000771107 SCV000902777 benign Arrhythmia 2018-03-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000398075 SCV000370235 benign Familial atrial fibrillation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000299402 SCV000370236 benign Jervell and Lange-Nielsen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000354280 SCV000370237 benign Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000399181 SCV000370238 benign short QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000315237 SCV000370239 benign Romano-Ward syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000354280 SCV000555799 benign Long QT syndrome 2017-08-21 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035346 SCV000058994 benign not specified 2012-05-07 criteria provided, single submitter clinical testing 478-10G>A in Intron 02 of KCNQ1: This variant is not expected to have clinical s ignificance because it has been identified in 14.7% (549/3734) of African Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs28730752).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.