ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.770T>G (p.Leu257Arg) (rs28934577)

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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 RCV000130981 SCV000185898 likely pathogenic Hereditary cancer-predisposing syndrome 2012-08-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Deficient protein function in appropriate functional assay(s),In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Rarity in general population databases (dbsnp, esp, 1000 genomes),Other data supporting pathogenic classification

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