ClinVar Miner

Submissions for variant NM_000760.4(CSF3R):c.2422G>A (p.Glu808Lys)

gnomAD frequency: 0.00588  dbSNP: rs146617729
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503532 SCV000594227 likely benign not specified 2016-09-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000653392 SCV000775271 benign Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 2025-01-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496944 SCV002798795 likely benign Hereditary neutrophilia; Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 2021-07-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003222007 SCV003916443 benign not provided 2024-07-01 criteria provided, single submitter clinical testing CSF3R: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV003222007 SCV005263592 likely benign not provided criteria provided, single submitter not provided
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003222007 SCV005877352 benign not provided 2024-10-14 criteria provided, single submitter clinical testing

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