ClinVar Miner

Submissions for variant NM_003722.5(TP63):c.1790T>C (p.Ile597Thr)

dbSNP: rs1577213466
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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 Munich, Klinikum Rechts Der Isar, TU München RCV000995905 SCV001150298 pathogenic Rapp-Hodgkin syndrome 2019-02-14 criteria provided, single submitter clinical testing

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