ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.-13G>C

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004012598 SCV004841242 uncertain significance Von Hippel-Lindau syndrome 2023-10-23 criteria provided, single submitter clinical testing This variant causes a G to C nucleotide substitution at the -13 position of the 5' untranslated region 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 been identified in 5/136376 chromosomes 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.
Myriad Genetics, Inc. RCV004012598 SCV005404847 likely benign Von Hippel-Lindau syndrome 2024-08-08 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.

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