ClinVar Miner

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

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000150859 SCV000228825 benign not specified 2015-02-02 criteria provided, single submitter clinical testing
Invitae RCV000205857 SCV000259577 benign Long QT syndrome 2020-12-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001094688 SCV000435797 likely benign Long QT syndrome 5 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
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 2 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Ambry Genetics RCV000619161 SCV000737456 likely benign Cardiovascular phenotype 2017-04-06 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
CeGaT Praxis fuer Humangenetik Tuebingen RCV000857749 SCV001153555 likely benign not provided 2018-08-01 criteria provided, single submitter clinical testing

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