ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.2013C>T (p.Ala671=)

dbSNP: rs2116955668
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002146193 SCV002467291 likely benign Long QT syndrome 2020-11-07 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003591918 SCV004358327 uncertain significance Cardiac arrhythmia 2022-11-06 criteria provided, single submitter clinical testing This variant is located in the KCNH2 protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with KCNH2-related disorders in the literature. This variant has not been identified 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.
All of Us Research Program, National Institutes of Health RCV002146193 SCV004828922 uncertain significance Long QT syndrome 2023-06-08 criteria provided, single submitter clinical testing This variant is located in the KCNH2 protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with KCNH2-related disorders in the literature. This variant has not been identified 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.

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