ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.583C>T (p.Gln195Ter) (rs5030825)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492237 SCV000580951 pathogenic Hereditary cancer-predisposing syndrome 2016-12-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense),Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation

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