ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.1860C>T (p.His620=) (rs139893266)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126441 SCV000169948 benign not specified 2013-01-31 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 RCV001085293 SCV000253120 benign Long QT syndrome 2020-12-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000126441 SCV000270313 likely benign not specified 2017-12-14 criteria provided, single submitter clinical testing p.His620His in Exon 16 of KCNQ1: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in several populations with the highest frequency of 0.23% (33/13990) of East Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs 139893266).
Ambry Genetics RCV000245982 SCV000318984 likely benign Cardiovascular phenotype 2016-06-24 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Color Health, Inc RCV000776197 SCV000911329 benign Arrhythmia 2018-04-10 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000200765 SCV001148161 likely benign not provided 2019-02-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001285206 SCV001471604 likely benign none provided 2019-08-14 criteria provided, single submitter clinical testing

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