ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.702C>G (p.Tyr234Ter)

dbSNP: rs2151021924
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001381122 SCV001579374 pathogenic Li-Fraumeni syndrome 2021-07-14 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004037649 SCV004932663 pathogenic Li-Fraumeni syndrome 1 2024-02-16 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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