ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.394C>T (p.Gln132Ter) (rs5030813)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000404768 SCV000342952 pathogenic not provided 2016-06-30 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000767266 SCV000897817 pathogenic Von Hippel-Lindau syndrome 2018-08-01 criteria provided, single submitter clinical testing

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