ClinVar Miner

Submissions for variant NC_000019.10:g.(?_35030801)_(35039721_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000708059 SCV000837169 uncertain significance Brugada syndrome 5 2018-07-18 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the SCN1B gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals with SCN1B-related disease. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in SCN1B cause 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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