ClinVar Miner

Submissions for variant NC_000003.11:g.10106407-?_10191654+?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 RCV001382028 SCV001580623 pathogenic Chuvash polycythemia; Von Hippel-Lindau syndrome 2016-03-04 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. Partial and entire coding sequence deletions in the VHL gene have been reported in multiple individuals and families with von Hippel-Lindau disease (PMID: 19764026, 10830910, 19280651, 10567493, 8634692, 17537157, 20567917). For these reasons, this variant has been classified as Pathogenic.

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