ClinVar Miner

Submissions for variant NM_000760.4(CSF3R):c.1458G>A (p.Thr486=)

gnomAD frequency: 0.00150  dbSNP: rs138289951
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502381 SCV000594232 likely benign not specified 2017-01-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000553390 SCV000656827 benign Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 2024-01-29 criteria provided, single submitter clinical testing

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