ClinVar Miner

Submissions for variant NM_002520.7(NPM1):c.543T>C (p.Phe181=)

gnomAD frequency: 0.00991  dbSNP: rs61755048
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001817159 SCV002064911 benign not specified 2021-05-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489868 SCV002801172 likely benign Acute myeloid leukemia 2022-04-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706253 SCV005221992 likely benign not provided criteria provided, single submitter not provided

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