ClinVar Miner

Submissions for variant NM_000760.4(CSF3R):c.447G>C (p.Glu149Asp)

gnomAD frequency: 0.00300  dbSNP: rs139332126
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000504453 SCV000594233 likely benign not specified 2016-11-14 criteria provided, single submitter clinical testing
Invitae RCV001082317 SCV000656836 benign Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000658506 SCV000780274 likely benign not provided 2020-03-01 criteria provided, single submitter clinical testing
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital RCV000504453 SCV000864365 likely benign not specified 2017-08-15 criteria provided, single submitter clinical testing BS1, BP4; This alteration has an allele frequency that is greater than expected for the associated disease, and is predicted to be tolerated by multiple functional prediction tools.
GeneDx RCV000658506 SCV001874752 uncertain significance not provided 2021-07-22 criteria provided, single submitter clinical testing Identified in a patient with Shwachman-Diamond syndrome, but it is not clear if the variant occurred as a germline or somatic variant (Klimiankou et al., 2019); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 33108454, 30891028)
PreventionGenetics, part of Exact Sciences RCV003925455 SCV004751833 likely benign CSF3R-related condition 2020-03-25 criteria provided, single submitter 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).
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000658506 SCV001926831 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000658506 SCV001969177 likely benign not provided no assertion criteria provided clinical testing

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