ClinVar Miner

Submissions for variant NC_000001.11:g.(?_17018871)_(17054029_?)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 RCV000800672 SCV000940402 pathogenic Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2019-07-10 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the SDHB 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 been observed in several individuals affected with paragangliomas (PMID: 16258955, 19351833). While the boundaries of this deletion are not known, similar deletions encompassing the whole SDHB coding sequence have been reported in individuals affected with paraganglioma (PMID: 16258955, 19351833). Loss-of-function variants in SDHB are known to be pathogenic (PMID: 19454582, 19802898). For these reasons, this variant has been classified as Pathogenic.

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