ClinVar Miner

Submissions for variant NC_000012.11:g.(?_33021841)_(33049685_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000708079 SCV000837189 uncertain significance Arrhythmogenic right ventricular dysplasia 9 2018-01-31 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 1-4 of the PKP2 gene. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 4 of the PKP2 gene. The exact location of this variant in the genome is unknown. This variant has not been reported in the literature in individuals with PKP2-related disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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