ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.-29GGCCCGCCC[3]

dbSNP: rs754605400
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001843090 SCV001346482 uncertain significance Cardiac arrhythmia 2023-04-25 criteria provided, single submitter clinical testing This variant results in a duplication of 9 nucleotides in the 5' UTR of the KCNH2 gene. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 5/220918 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002505766 SCV002796400 uncertain significance Short QT syndrome type 1; Long QT syndrome 2 2022-02-03 criteria provided, single submitter clinical testing

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