ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.401T>G (p.Phe134Cys) (rs780442292)

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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 RCV000214547 SCV000274039 likely pathogenic Hereditary cancer-predisposing syndrome 2015-02-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Deficient protein function in appropriate functional assay(s),Rarity in general population databases (dbsnp, esp, 1000 genomes),In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Other data supporting pathogenic classification
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000656580 SCV000778630 likely pathogenic not provided 2013-04-09 no assertion criteria provided clinical testing

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