ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.392_398dup (p.Met133fs)

dbSNP: rs2151033760
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002243556 SCV002512254 likely pathogenic Li-Fraumeni syndrome 1 2022-01-27 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PM2 moderate

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