ClinVar Miner

Submissions for variant NC_000003.12:g.(?_10141838)_(10149975_?)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 RCV000793474 SCV000932826 pathogenic Chuvash polycythemia; Von Hippel-Lindau syndrome 2018-10-03 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 affected individuals (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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