ClinVar Miner

Submissions for variant NM_001972.4(ELANE):c.366+12C>A

gnomAD frequency: 0.00017  dbSNP: rs377068029
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001723231 SCV001950964 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821966 SCV002069585 likely benign not specified 2019-08-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073381 SCV002459858 likely benign Cyclical neutropenia; Neutropenia, severe congenital, 1, autosomal dominant 2024-01-26 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001723231 SCV004562510 likely benign not provided 2023-09-08 criteria provided, single submitter clinical testing

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