ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.1010G>T (p.Arg337Leu) (rs121912664)

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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 RCV000132259 SCV000187342 likely pathogenic Hereditary cancer-predisposing syndrome 2016-09-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Deficient protein function in appropriate functional assay(s),Well-characterized mutation at same position,Rarity in general population databases (dbsnp, esp, 1000 genomes),In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne RCV000785297 SCV000923865 likely pathogenic Ovarian Neoplasms 2018-12-01 no assertion criteria provided research

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