ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.797del (p.Gly266fs)

dbSNP: rs1567548223
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV004027352 SCV004932599 pathogenic Li-Fraumeni syndrome 1 2024-02-20 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne RCV000785518 SCV000924090 pathogenic Ovarian neoplasm 2018-12-01 no assertion criteria provided research

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