ClinVar Miner

Submissions for variant NC_000003.12:g.(?_10064723)_(10149971_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000558078 SCV000626868 pathogenic Chuvash polycythemia; Von Hippel-Lindau syndrome 2017-12-15 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the VHL 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. Deletions of the entire VHL gene have been reported in multiple individuals and families with von Hippel-Lindau syndrome (PMID: 10830910, 10567493, 8634692, 17537157, 20567917). Loss-of-function variants in VHL are known to be pathogenic (PMID: 8956040, 12202531). For these reasons, this variant has been classified as Pathogenic.

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