ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.351G>T (p.Trp117Cys) (rs727504215)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723964 SCV000203788 pathogenic not provided 2014-04-24 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000154124 SCV000697504 pathogenic Von Hippel-Lindau syndrome 2016-02-03 criteria provided, single submitter clinical testing Variant summary: The variant of interest causes a missense change involving a conserved nucleotide with 5/5 in silico programs predicting a "deleterious" outcome. The variant of interest was not observed in controls (ExAC, 1000 Gs or ESP) but has been reported in multiple affected individuals via publications, along with reputable databases/clinical laboratories citing the variant with a classification of "pathogenic." Therefore, taking all available lines of evidence, the variant of interest is classified as Pathogenic.
Ambry Genetics RCV001020510 SCV001181999 pathogenic Hereditary cancer-predisposing syndrome 2018-06-27 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;Rarity in general population databases (dbsnp, esp, 1000 genomes);Strong segregation with disease (lod >3 = >10 meioses)
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000154124 SCV000264722 pathogenic Von Hippel-Lindau syndrome 2016-02-26 no assertion criteria provided clinical testing

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