ClinVar Miner

Submissions for variant NM_033550.4(TP53RK):c.128C>T (p.Ala43Val)

dbSNP: rs886913294
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003631 SCV001162058 likely pathogenic Global developmental delay; Seizure no assertion criteria provided research

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