ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.496G>T (p.Val166Phe) (rs104893825)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000220823 SCV000274633 pathogenic Hereditary cancer-predisposing syndrome 2016-06-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Confirmed de novo alteration in the setting of a new disease (appropriate phenotype) in the family,Deficient protein function in appropriate functional assay(s),Moderate segregation with disease (at least 3 informative meioses) for rare diseases.,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Rarity in general population databases (dbsnp, esp, 1000 genomes)
OMIM RCV000002310 SCV000022468 pathogenic Von Hippel-Lindau syndrome 1996-01-01 no assertion criteria provided literature only

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