ClinVar Miner

Submissions for variant NM_006060.6(IKZF1):c.530T>C (p.Leu177Pro)

dbSNP: rs2153477847
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001706897 SCV001934464 likely pathogenic Pancytopenia due to IKZF1 mutations 2021-03-02 criteria provided, single submitter clinical testing
Genomic Diagnostics Laboratory, National Institute of Medical Genomics RCV003444111 SCV004036046 likely pathogenic Acute lymphoid leukemia 2023-09-23 criteria provided, single submitter clinical testing

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