ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.249G>A (p.Ala83=) (rs55754907)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165522 SCV000216254 likely benign Hereditary cancer-predisposing syndrome 2014-10-08 criteria provided, single submitter clinical testing
Color RCV000165522 SCV000691587 likely benign Hereditary cancer-predisposing syndrome 2017-08-11 criteria provided, single submitter clinical testing
Counsyl RCV000662756 SCV000785544 likely benign Li-Fraumeni syndrome 1 2017-09-06 criteria provided, single submitter clinical testing
GeneDx RCV000438725 SCV000514935 likely benign not specified 2018-02-02 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 RCV000199910 SCV000254628 uncertain significance Li-Fraumeni syndrome 2017-11-15 criteria provided, single submitter clinical testing

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