ClinVar Miner

Submissions for variant NM_000760.4(CSF3R):c.1213G>A (p.Glu405Lys)

gnomAD frequency: 0.00492  dbSNP: rs3918019
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000533016 SCV000656825 benign Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 2024-01-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821646 SCV002067102 benign not specified 2018-06-12 criteria provided, single submitter clinical testing

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