ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.1528C>T (p.Leu510=)

gnomAD frequency: 0.00085  dbSNP: rs75648145
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232077 SCV000283961 benign Long QT syndrome 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000253513 SCV000319939 likely benign Cardiovascular phenotype 2015-07-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Eurofins Ntd Llc (ga) RCV000597187 SCV000702107 benign not specified 2016-10-25 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001842991 SCV000903005 benign Cardiac arrhythmia 2018-03-08 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001159684 SCV001321412 uncertain significance Long QT syndrome 2 2017-04-27 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000597187 SCV001572467 benign not specified 2021-04-08 criteria provided, single submitter clinical testing
GeneDx RCV001658052 SCV001881703 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001658052 SCV002497578 benign not provided 2024-07-01 criteria provided, single submitter clinical testing KCNH2: BP4, BP7, BS1, BS2
All of Us Research Program, National Institutes of Health RCV000232077 SCV004843979 benign Long QT syndrome 2024-02-05 criteria provided, single submitter clinical testing

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