ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.593T>C (p.Leu198Pro) (rs869025667)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000208871 SCV000597846 likely pathogenic Von Hippel-Lindau syndrome 2016-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV001024703 SCV001186771 likely pathogenic Hereditary cancer-predisposing syndrome 2018-10-04 criteria provided, single submitter clinical testing Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation;In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Other data supporting pathogenic classification;Rarity in general population databases (dbsnp, esp, 1000 genomes)
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000208871 SCV000264775 likely pathogenic Von Hippel-Lindau syndrome 2016-02-26 no assertion criteria provided clinical testing

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