ClinVar Miner

Submissions for variant NM_001972.4(ELANE):c.746C>T (p.Ser249Phe)

dbSNP: rs201224216
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001722269 SCV000291937 likely benign not provided 2018-07-24 criteria provided, single submitter clinical testing
Invitae RCV001795377 SCV001018926 likely benign Cyclical neutropenia; Neutropenia, severe congenital, 1, autosomal dominant 2023-11-14 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262839 SCV002543432 benign Autoinflammatory syndrome 2022-04-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001722269 SCV004138995 benign not provided 2022-07-01 criteria provided, single submitter clinical testing ELANE: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003947803 SCV004759955 likely benign ELANE-related disorder 2021-01-15 criteria provided, single submitter 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).
Genetic Services Laboratory, University of Chicago RCV003151002 SCV003839466 likely benign not specified 2022-11-30 no assertion criteria provided clinical testing

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