ClinVar Miner

Submissions for variant NM_001972.4(ELANE):c.68-19G>A

gnomAD frequency: 0.00005  dbSNP: rs199933756
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001725014 SCV001950785 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002538668 SCV003243540 likely benign Cyclical neutropenia; Neutropenia, severe congenital, 1, autosomal dominant 2023-05-22 criteria provided, single submitter clinical testing

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