ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.97-3C>T (rs786203749)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000167188 SCV000218025 uncertain significance Hereditary cancer-predisposing syndrome 2014-12-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000167188 SCV000691672 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-09 criteria provided, single submitter clinical testing
GeneDx RCV000478081 SCV000567393 uncertain significance not provided 2016-04-09 criteria provided, single submitter clinical testing This variant is denoted TP53 c.97-3C>T or IVS3-3C>T and consists of a C>T nucleotide substitution at the -3 position of intron 3 of the TP53 gene. This variant is not predicted to affect gene splicing. TP53 c.97-3C>T has not, to our knowledge, been published in the literature as pathogenic or benign. This variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. The cytosine (C) nucleotide that is altered is not conserved. Based on currently available information, it is unclear whether TP53 c.97-3C>T is pathogenic or benign. We consider it to be a variant of uncertain significance.
Invitae RCV000465475 SCV000545323 uncertain significance Li-Fraumeni syndrome 2017-08-02 criteria provided, single submitter clinical testing

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