ClinVar Miner

Submissions for variant NM_000760.4(CSF3R):c.1723+8T>C

gnomAD frequency: 0.00076  dbSNP: rs143931193
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000887887 SCV001031477 benign Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 2025-01-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV003151183 SCV003839391 likely benign not specified 2022-12-14 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003968076 SCV004784571 likely benign CSF3R-related disorder 2019-05-02 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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