ClinVar Miner

Submissions for variant NM_000760.4(CSF3R):c.1577-12C>G

gnomAD frequency: 0.00125  dbSNP: rs200420429
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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 RCV001523152 SCV001732821 benign Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 2024-01-07 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821844 SCV002068345 likely benign not specified 2019-06-24 criteria provided, single submitter clinical testing

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