ClinVar Miner

Submissions for variant NM_032492.4(JAGN1):c.3G>A (p.Met1Ile) (rs587777727)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Klein lab, Ludwig-Maximilians-University RCV000170600 SCV000223152 pathogenic Severe congenital neutropenia 2013-01-01 criteria provided, single submitter in vitro Neutropenia patients with mutations in JAGN1 respond poorly to treatment with recombinant human G-CSF
OMIM RCV000144162 SCV000189242 pathogenic Severe congenital neutropenia 6, autosomal recessive 2014-09-01 no assertion criteria provided literature only

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