ClinVar Miner

Submissions for variant NM_003000.2(SDHB):c.-151_*159del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227793 SCV000287755 pathogenic Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2016-09-15 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. Gross deletions in SDHB are known to be pathogenic (PMID: 23666964, 19351833). While the boundaries of this deletion are not known, similar deletions encompassing the whole SDHB coding region have been reported in individuals affected with paraganglioma (PMID: 16258955, 19351833). For these reasons, this variant has been classified as Pathogenic.

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