ClinVar Miner

Submissions for variant NM_001972.4(ELANE):c.333C>G (p.Pro111=)

gnomAD frequency: 0.00004  dbSNP: rs774932781
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788909 SCV000928200 uncertain significance not provided 2019-01-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001796216 SCV001611435 likely benign Cyclical neutropenia; Neutropenia, severe congenital, 1, autosomal dominant 2023-10-13 criteria provided, single submitter clinical testing
GeneDx RCV000788909 SCV001992527 uncertain significance not provided 2019-04-24 criteria provided, single submitter clinical testing In silico analysis, which includes splice predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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