ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.450A>G (p.Thr150=) (rs754020850)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000565437 SCV000667176 likely benign Hereditary cancer-predisposing syndrome 2015-10-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000422127 SCV000514939 likely benign not specified 2016-01-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000196962 SCV000253313 likely benign Li-Fraumeni syndrome 2015-05-27 criteria provided, single submitter clinical testing

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