ClinVar Miner

Submissions for variant NM_000760.4(CSF3R):c.2241C>T (p.Ser747=)

gnomAD frequency: 0.00001  dbSNP: rs372773604
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001400861 SCV001602672 likely benign Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 2024-07-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820099 SCV002065689 likely benign not specified 2018-09-17 criteria provided, single submitter clinical testing

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