Submissions for variant NM_005263.5(GFI1):c.925-40CT[15]

dbSNP: rs35896485

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000376604	SCV000359111	benign	Severe congenital neutropenia	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001523643	SCV001733394	benign	Neutropenia, severe congenital, 2, autosomal dominant	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV001612935	SCV001834887	benign	not provided	2021-05-05	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002502182	SCV002809997	likely benign	Nonimmune chronic idiopathic neutropenia of adults; Neutropenia, severe congenital, 2, autosomal dominant	2022-03-08	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001612935	SCV002034265	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001612935	SCV002036547	likely benign	not provided		no assertion criteria provided	clinical testing
GenomeConnect, ClinGen	RCV001612935	SCV002074650	not provided	not provided		no assertion provided	phenotyping only	Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing.