ClinVar Miner

Submissions for variant NM_000760.4(CSF3R):c.1665G>T (p.Gly555=)

gnomAD frequency: 0.00015  dbSNP: rs139705992
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001507952 SCV001713810 uncertain significance not provided 2021-03-16 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821801 SCV002068985 uncertain significance not specified 2018-03-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002071877 SCV002402304 likely benign Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 2021-09-15 criteria provided, single submitter clinical testing

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