ClinVar Miner

Submissions for variant NM_003002.3(SDHD):c.-84_*831del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226312 SCV000287809 pathogenic Pheochromocytoma; Paragangliomas 1 2016-06-01 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the SDHD 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. Truncating variants in SDHD are known to be pathogenic (PMID: 19802898, 19454582) . This variant has been reported to segregate with paraganglioma in a single family (PMID: 15531530). For these reasons, this variant has been classified as Pathogenic.

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