ClinVar Miner

Submissions for variant NM_000760.4(CSF3R):c.93C>T (p.Val31=)

gnomAD frequency: 0.00036  dbSNP: rs150277708
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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 RCV001457768 SCV001661574 likely benign Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 2023-12-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820148 SCV002067124 likely benign not specified 2021-10-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965909 SCV004777556 likely benign CSF3R-related disorder 2021-10-13 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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