ClinVar Miner

Submissions for variant NM_001972.4(ELANE):c.225-8C>T

gnomAD frequency: 0.00003  dbSNP: rs771866084
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002192754 SCV002355120 likely benign Cyclical neutropenia; Neutropenia, severe congenital, 1, autosomal dominant 2023-10-27 criteria provided, single submitter clinical testing

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