ClinVar Miner

Submissions for variant NM_001972.4(ELANE):c.597+10C>G

gnomAD frequency: 0.00006  dbSNP: rs201460728
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001722602 SCV000716147 likely benign not provided 2018-06-15 criteria provided, single submitter clinical testing
Invitae RCV001796135 SCV001007475 likely benign Cyclical neutropenia; Neutropenia, severe congenital, 1, autosomal dominant 2024-01-22 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263822 SCV002543120 likely benign Autoinflammatory syndrome 2020-06-01 criteria provided, single submitter clinical testing

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