ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.1692A>G (p.Leu564=) (rs1805121)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181726 SCV000234029 benign not specified 2011-07-10 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.
PreventionGenetics,PreventionGenetics RCV000181726 SCV000303112 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000245504 SCV000317647 benign Cardiovascular phenotype 2015-02-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000378634 SCV000467519 likely benign Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000181726 SCV000711389 benign not specified 2017-11-02 criteria provided, single submitter clinical testing Leu564Leu in exon 7 of KCNH2: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 87% (16383/18860) o f East Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gnom ad.broadinstitute.org; dbSNP rs1805121).
Athena Diagnostics Inc RCV000712073 SCV000842487 benign not provided 2017-04-20 criteria provided, single submitter clinical testing
Color RCV000771037 SCV000902536 benign Arrhythmia 2018-03-16 criteria provided, single submitter clinical testing

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