ClinVar Miner

Submissions for variant NM_000760.4(CSF3R):c.1319G>A (p.Arg440Gln)

gnomAD frequency: 0.00363  dbSNP: rs3918020
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194808 SCV000247122 benign not specified 2021-06-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000960585 SCV001107581 benign Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 2025-01-30 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572784 SCV001797683 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001572784 SCV001930881 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001572784 SCV001972959 likely benign not provided no assertion criteria provided clinical testing

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