ClinVar Miner

Submissions for variant NM_001972.4(ELANE):c.441C>T (p.Asn147=)

gnomAD frequency: 0.00022  dbSNP: rs146878885
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002118326 SCV002449581 likely benign Cyclical neutropenia; Neutropenia, severe congenital, 1, autosomal dominant 2023-12-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003958845 SCV004779612 likely benign ELANE-related disorder 2024-01-04 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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