ClinVar Miner

Submissions for variant NM_006060.6(IKZF1):c.1176C>T (p.Asn392=)

gnomAD frequency: 0.05224  dbSNP: rs61731356
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001647808 SCV001857200 benign not provided 2019-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001647808 SCV002973396 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001647808 SCV005271065 benign not provided criteria provided, single submitter not provided
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV005232637 SCV005875694 benign Pancytopenia due to IKZF1 mutations 2024-09-05 criteria provided, single submitter clinical testing

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