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  2. onlinelibrary-wiley-com.uhn.idm.oclc.org onlinelibrary-wiley-com.uhn.idm.oclc.org
    Usefulness of Succinate dehydrogenase B (SDHB) immunohistochemistry in guiding mutational screening among patients with pheochromocytoma-paraganglioma syndromes
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    1. ClingenBaseline 05 Nov 2026
      F 18 VHL 2 B/L PCC, PNET c. IVS2+3A>G ?splice site

      PatientID: None

      KindredID: 3

      Case: F, 18Y0M, Ethnicity Unknown

      DiseaseAssertion: assumed VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0002666; HP:0030405 (pheochromocytoma; pancreatic endocrine tumor)

      CaseHPOFreeText: patient had a bilateral pheochromocytoma and PNETs

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET/ SDHB/ SDHD/ SDHC

      PreviouslyPublished: 23397066

      SupplementalData: N/A

      Variant: c.463+3A>G

      LegacyVariant: c.IVS2+3A>G

      CaseProblemVariantFreeText: N/A

      ClinVarID: 428796 https://www.ncbi.nlm.nih.gov/clinvar/variation/428796/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: splice_site_variant

      CivicName: Splice Region (c.463+3A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma DiseaseEntity:pancreaticendocrinetumor Mutation:Germline AssumedRefSeq:NM_000551.3 MutationType:splice_site_variant CivicName:SpliceRegion(c.463+3A>G) cDNAposition:463 ClinVarID:428796 ClinVarID:Yes NoFamilyInfo PreviousTesting:RET/SDHB/SDHC/SDHD inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary-wiley-com.uhn.idm.oclc.org/doi/full/10.1111/apm.12269