ClinVar Miner

Submissions for variant NM_001972.4(ELANE):c.66G>A (p.Gly22=)

dbSNP: rs748560924
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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 RCV001796456 SCV001542058 likely benign Cyclical neutropenia; Neutropenia, severe congenital, 1, autosomal dominant 2022-06-20 criteria provided, single submitter clinical testing

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