ClinVar Miner

Submissions for variant NM_000219.6(KCNE1):c.162C>T (p.Phe54=) (rs17173508)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619470 SCV000737894 likely benign Cardiovascular phenotype 2017-01-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000469999 SCV000560079 benign Long QT syndrome 2017-12-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000214091 SCV000269195 benign not specified 2015-04-17 criteria provided, single submitter clinical testing Phe54Phe in Exon 03 of KCNE1: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.5% (42/8646) of East Asian chromosomes including 1 homozygote by the Exome Aggregation Consortium (E xAC, http://exac.broadinstitute.org; dbSNP rs17173508).

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