All patients that were operated between 1995 and 2010 in the University Medical Center Groningen from who frozen hemangioblastoma tissue was available in the tissue bank of the Department of Pathology were eligible. One patient sample was confirmed with this germline splice mutation in the VHL gene, reported as c.463+3A>C in the supplemental information. Should note that the only time the text mentions a splice site mutation however is at: c.463+2T>C p.(?). No other phenotypic or demographic information was available.

PatientID: VHL 11

KindredID: VHL 11

Case: Sex, Age, Ethnicity unknown

DiseaseAssertion: hemangioblastoma

FamilyInfo: N/A

CasePresentingHPOs: HP:0010797 (hemangioblastoma)

CaseHPOFreeText: Three samples of VHL hemangioblastomas were represented here (.1, .2, .3). They are recorded as both germline and somatic, involving the VHL- and C3ORF10-gene.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A - This sample was likely duplicated in 24132471

SupplementalData: Yes - See Supplementary Table 1

Variant: c.463+3A>C

LegacyVariant: N/A

CaseProblemVariantFreeText: Supplemental data records this as a c.463+3A>C (p.(?)) mutation. The only time the text mentions a splice site mutation however is at: c.463+2T>C p.(?). Will go by supplemental data but be cautious of this discrepancy.

ClinVarID: N/A

CAID: CA645525016 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.463%2B3A%3EC

gnomAD: N/A

VariantEvidence: N/A

MutationType: splice_site_variant

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

MultipleGeneVariants: N/A