ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.334_364dup (p.Val122fs) (rs1555526495)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomics Laboratory,Virgen de la Arrixaca University Clinical Hospital RCV000494892 SCV000583522 pathogenic Li-Fraumeni syndrome 2017-07-12 no assertion criteria provided clinical testing Variant c.334_364dup produces a truncated protein with the loss of several domains.

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