Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001033008 | SCV001196315 | pathogenic | Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma | 2022-08-31 | 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. Loss-of-function variants in SDHB are known to be pathogenic (PMID: 19454582, 19802898). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. A similar copy number variant has been observed in individual(s) with paraganglioma (PMID: 16258955, 19351833). For these reasons, this variant has been classified as Pathogenic. |