ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.340+7del

dbSNP: rs1575922613
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001462637 SCV001666561 likely benign Chuvash polycythemia; Von Hippel-Lindau syndrome 2022-03-04 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004003183 SCV004820562 uncertain significance Von Hippel-Lindau syndrome 2023-04-03 criteria provided, single submitter clinical testing This variant causes deletion of one nucleotide at the +7 position of intron 1 in the VHL gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with VHL-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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