ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.208G>T (p.Glu70Ter) (rs5030802)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492695 SCV000580984 pathogenic Hereditary cancer-predisposing syndrome 2014-10-03 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
PreventionGenetics,PreventionGenetics RCV000679020 SCV000805325 pathogenic not provided 2017-10-03 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000767235 SCV000897778 pathogenic Von Hippel-Lindau syndrome 2018-08-01 criteria provided, single submitter clinical testing

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