Submissions for variant NM_005263.5(GFI1):c.925-40CT[16]

dbSNP: rs35896485

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000261620	SCV000359109	uncertain significance	Severe congenital neutropenia	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000526109	SCV000648523	benign	Neutropenia, severe congenital, 2, autosomal dominant	2025-01-27	criteria provided, single submitter	clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV003227739	SCV003924203	likely benign	Nonimmune chronic idiopathic neutropenia of adults; Neutropenia, severe congenital, 2, autosomal dominant	2022-11-09	criteria provided, single submitter	clinical testing	This variant has not been reported in the literature and is not present in large control databases. This variant is present in ClinVar (Variation ID: 298184). Evolutionary conservation and computational prediction tools for this variant are limited or unavailable. This variant is a deletion of 4 nucleotides in a repetitive region within the intron. Splice prediction tools do not suggest that this variant may affect splicing. However, further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.