ClinVar Miner

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

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Total submissions: 3
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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.
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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