ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.267del (p.Ser90fs)

dbSNP: rs587783062
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV000144663 SCV004931147 pathogenic Li-Fraumeni syndrome 1 2024-02-12 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Pathway Genomics RCV000144663 SCV000189993 likely pathogenic Li-Fraumeni syndrome 1 2014-07-24 no assertion criteria provided clinical testing

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