ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.173C>G (p.Pro58Arg) (rs144386518)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000122181 SCV000149624 likely benign not specified 2017-07-28 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 RCV000115715 SCV000186534 likely benign Hereditary cancer-predisposing syndrome 2017-08-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbSNP, ESP, 1000 Genomes),in silico models in agreement (benign),Other data supporting benign classification
Invitae RCV000586104 SCV000261712 likely benign not provided 2019-02-20 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000122181 SCV000602262 likely benign not specified 2017-04-06 criteria provided, single submitter clinical testing
Color RCV000115715 SCV000691583 likely benign Hereditary cancer-predisposing syndrome 2016-03-08 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586104 SCV000697432 likely benign not provided 2016-01-08 criteria provided, single submitter clinical testing
Counsyl RCV000662515 SCV000785059 uncertain significance Li-Fraumeni syndrome 1 2017-03-28 criteria provided, single submitter clinical testing
ITMI RCV000122181 SCV000086397 not provided not specified 2013-09-19 no assertion provided reference population

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