Submissions for variant NM_000760.4(CSF3R):c.704T>C (p.Met235Thr)

gnomAD frequency: 0.00133  dbSNP: rs141729889

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000970043	SCV001117597	likely benign	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	2025-01-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003279171	SCV004004831	uncertain significance	Inborn genetic diseases	2023-06-01	criteria provided, single submitter	clinical testing	The c.704T>C (p.M235T) alteration is located in exon 7 (coding exon 5) of the CSF3R gene. This alteration results from a T to C substitution at nucleotide position 704, causing the methionine (M) at amino acid position 235 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics	RCV004711476	SCV005263636	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003960820	SCV004767876	likely benign	CSF3R-related disorder	2023-11-27	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).