ClinVar Miner

Submissions for variant NM_000760.4(CSF3R):c.2211C>T (p.Ser737=)

gnomAD frequency: 0.00034  dbSNP: rs376211630
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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 RCV000909784 SCV001054607 likely benign Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 2025-02-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002264083 SCV002544263 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing CSF3R: BP4, BP7

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