ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.1176_1177insAGAA (p.Asp393fs)

dbSNP: rs2543448727
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV003128309 SCV003804737 uncertain significance Li-Fraumeni syndrome 1 2023-01-31 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PVS1_STR, PM2_SUP

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