ClinVar Miner

Submissions for variant NM_000218.2(KCNQ1):c.447C>T (p.Ala149=) (rs146436765)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000243561 SCV000319808 likely benign Cardiovascular phenotype 2015-06-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000777986 SCV000914092 benign Arrhythmia 2018-08-05 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000150864 SCV000343281 likely benign not specified 2016-07-19 criteria provided, single submitter clinical testing
GeneDx RCV000150864 SCV000169953 benign not specified 2013-06-14 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.
Invitae RCV000232615 SCV000283881 benign Long QT syndrome 2016-02-06 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150864 SCV000198423 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Ala149Ala in Exon 02 of KCNQ1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.4% (14/3738) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs146436765).

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