ClinVar Miner

Submissions for variant NM_006060.6(IKZF1):c.500A>G (p.His167Arg)

dbSNP: rs869312884
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV001027579 SCV001190149 pathogenic Inherited Immunodeficiency Diseases 2019-01-01 criteria provided, single submitter research
OMIM RCV000210347 SCV000266392 pathogenic Pancytopenia due to IKZF1 mutations 2016-08-25 no assertion criteria provided literature only

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