Submissions for variant NM_001972.4(ELANE):c.770C>T (p.Pro257Leu)

gnomAD frequency: 0.00569  dbSNP: rs17216663

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000243329	SCV000308579	benign	not specified		criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000444348	SCV000511044	likely benign	not provided	2017-01-06	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Genetic Services Laboratory, University of Chicago	RCV000243329	SCV000594539	benign	not specified	2016-12-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000444348	SCV000603439	likely benign	not provided	2023-11-22	criteria provided, single submitter	clinical testing
Invitae	RCV001795448	SCV000644192	benign	Cyclical neutropenia; Neutropenia, severe congenital, 1, autosomal dominant	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000444348	SCV001950457	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23454784, 11675333, 22995991, 27153395, 18043239)
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262878	SCV002543435	benign	Autoinflammatory syndrome	2022-03-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000444348	SCV002546027	benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	ELANE: BP4, BS1, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000444348	SCV001798743	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000444348	SCV001809701	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000444348	SCV001966884	likely benign	not provided		no assertion criteria provided	clinical testing