ClinVar Miner

Submissions for variant NM_000760.4(CSF3R):c.1794C>T (p.Ile598=)

gnomAD frequency: 0.00872  dbSNP: rs3917998
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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 RCV000503971 SCV000594230 benign not specified 2017-03-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000547268 SCV000656832 benign Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004715240 SCV005285157 benign not provided criteria provided, single submitter not provided

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