ClinVar Miner

Submissions for variant NM_000760.4(CSF3R):c.2496G>A (p.Ala832=)

gnomAD frequency: 0.00056  dbSNP: rs150501885
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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 RCV000501446 SCV000594226 benign not specified 2019-10-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000535722 SCV000656834 benign Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 2024-01-10 criteria provided, single submitter clinical testing

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