ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.1563C>T (p.Ile521=) (rs143011005)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000179737 SCV000232033 uncertain significance not provided 2015-02-11 criteria provided, single submitter clinical testing
Invitae RCV001082498 SCV000283963 benign Long QT syndrome 2020-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000251581 SCV000318702 likely benign Cardiovascular phenotype 2015-03-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Color Health, Inc RCV000776078 SCV000910814 benign Arrhythmia 2018-03-08 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000179737 SCV001144312 benign not provided 2018-12-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001159683 SCV001321411 benign Long QT syndrome 2 2018-03-12 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001264431 SCV001442572 benign not specified 2020-10-24 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001285013 SCV001471129 benign none provided 2019-11-11 criteria provided, single submitter clinical testing

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