Submissions for variant NM_001972.4(ELANE):c.655G>A (p.Val219Ile)

gnomAD frequency: 0.00945  dbSNP: rs17216656

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001704049	SCV000168320	benign	not provided	2018-12-19	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 20981092, 27884173, 14962902)
PreventionGenetics, part of Exact Sciences	RCV000124880	SCV000308577	likely benign	not specified		criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001704049	SCV000603438	benign	not provided	2023-11-06	criteria provided, single submitter	clinical testing
Invitae	RCV001795232	SCV000765736	benign	Cyclical neutropenia; Neutropenia, severe congenital, 1, autosomal dominant	2024-01-29	criteria provided, single submitter	clinical testing
Mendelics	RCV000990118	SCV001140923	benign	Cyclical neutropenia	2019-05-28	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000124880	SCV002066033	benign	not specified	2020-10-07	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262720	SCV002543428	likely benign	Autoinflammatory syndrome	2020-02-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000124880	SCV001806989	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000124880	SCV001970067	benign	not specified		no assertion criteria provided	clinical testing