ClinVar Miner

Submissions for variant NM_000218.2(KCNQ1):c.478-8C>T (rs150711844)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000777764 SCV000913730 benign Arrhythmia 2018-07-22 criteria provided, single submitter clinical testing
GeneDx RCV000035347 SCV000169937 benign not specified 2012-04-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000369903 SCV000370240 likely benign Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000275258 SCV000370241 likely benign short QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000330352 SCV000370242 likely benign Familial atrial fibrillation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000366245 SCV000370243 likely benign Jervell and Lange-Nielsen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000271606 SCV000370244 likely benign Romano-Ward syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000369903 SCV000555811 benign Long QT syndrome 2018-01-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035347 SCV000058995 benign not specified 2012-04-30 criteria provided, single submitter clinical testing 478-8C>T in Intron 02 of KCNQ1: This variant is not expected to have clinical si gnificance because it has been identified in 0.6% (24/3734) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs150711844).

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