ClinVar Miner

Submissions for variant NC_000011.10:g.(?_112086902)_(112094975_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001032944 SCV001196251 pathogenic Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas 1; Cowden syndrome 3 2019-12-09 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. Whole gene deletion of SDHD has been reported to segregate with paraganglioma in a single family (PMID: 15531530). Loss-of-function variants in SDHD are known to be pathogenic (PMID: 19454582, 19802898). For these reasons, this variant has been classified as Pathogenic.

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