ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.1051A>T (p.Lys351Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Liquid Biopsy and Cancer Interception Group, Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research RCV003129624 SCV003806321 pathogenic Lung adenocarcinoma 2022-06-06 criteria provided, single submitter research
Myriad Genetics, Inc. RCV004245991 SCV004931691 pathogenic Li-Fraumeni syndrome 1 2024-02-21 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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