ClinVar Miner

Submissions for variant NM_001972.4(ELANE):c.786G>A (p.Pro262=)

gnomAD frequency: 0.00001  dbSNP: rs762273987
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264620 SCV002543439 uncertain significance Autoinflammatory syndrome 2016-12-12 criteria provided, single submitter clinical testing
Invitae RCV003774815 SCV004576147 likely benign Cyclical neutropenia; Neutropenia, severe congenital, 1, autosomal dominant 2023-11-04 criteria provided, single submitter clinical testing

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