ClinVar Miner

Submissions for variant NM_000219.6(KCNE1):c.30G>A (p.Thr10=) (rs187686559)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619161 SCV000737456 likely benign Cardiovascular phenotype 2017-04-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000150859 SCV000228825 benign not specified 2015-02-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000205857 SCV000435797 likely benign Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000264751 SCV000435798 likely benign Romano-Ward syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000329242 SCV000435799 likely benign Jervell and Lange-Nielsen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000205857 SCV000259577 benign Long QT syndrome 2017-12-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150859 SCV000198417 benign not specified 2016-10-06 criteria provided, single submitter clinical testing p.Thr10Thr in exon 3 of KCNE1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, it is not located wit hin the splice consensus sequence, and it has been identified in 0.5% (39/8618) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac .broadinstitute.org; dbSNP rs187686559).

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