ClinVar Miner

Submissions for variant NM_001972.4(ELANE):c.366+7C>T

dbSNP: rs1258334813
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001796520 SCV001692235 likely benign Cyclical neutropenia; Neutropenia, severe congenital, 1, autosomal dominant 2019-10-10 criteria provided, single submitter clinical testing
Mendelics RCV002246392 SCV002517020 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing

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