ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.1023C>T (p.Phe341=) (rs864622369)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205880 SCV000260330 likely benign not provided 2018-04-09 criteria provided, single submitter clinical testing
Counsyl RCV000411500 SCV000489439 likely benign Li-Fraumeni syndrome 1 2016-10-04 criteria provided, single submitter clinical testing
GeneDx RCV000420347 SCV000535235 likely benign not specified 2016-12-15 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.
Ambry Genetics RCV000575780 SCV000672379 likely benign Hereditary cancer-predisposing syndrome 2016-12-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
Color RCV000575780 SCV000686714 likely benign Hereditary cancer-predisposing syndrome 2016-11-21 criteria provided, single submitter clinical testing

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