ClinVar Miner

Submissions for variant NM_001972.4(ELANE):c.390C>T (p.Asn130=)

gnomAD frequency: 0.02903  dbSNP: rs17223045
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242403 SCV000308573 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001723847 SCV000603442 benign not provided 2023-11-16 criteria provided, single submitter clinical testing
Invitae RCV001795446 SCV000644190 benign Cyclical neutropenia; Neutropenia, severe congenital, 1, autosomal dominant 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001723847 SCV001950993 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262876 SCV002543416 benign Autoinflammatory syndrome 2022-03-05 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000242403 SCV001800068 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000242403 SCV001806990 benign not specified no assertion criteria provided clinical testing

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