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

gnomAD frequency: 0.00300  dbSNP: rs139332126

Total submissions: 8

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
Labcorp Genetics (formerly Invitae), Labcorp	RCV001082317	SCV000656836	benign	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	2025-01-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000658506	SCV000780274	likely benign	not provided	2024-10-01	criteria provided, single submitter	clinical testing	CSF3R: BP4, BS2
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)
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
PreventionGenetics, part of Exact Sciences	RCV003925455	SCV004751833	likely benign	CSF3R-related disorder	2020-03-25	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).