ClinVar Miner

Submissions for variant NM_012282.3(KCNE5):c.-144-?_*892dup1465

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000230354 SCV000289885 uncertain significance Brugada syndrome 2016-01-06 criteria provided, single submitter clinical testing A gross duplication of the genomic region encompassing the full coding sequence of the KCNE5 gene has been identified. This variant is not present in population databases and has not been reported in the literature in individuals with a KCNE5-related disease. In summary, this is a whole gene duplication with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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