ClinVar Miner

Submissions for variant NM_032492.4(JAGN1):c.130C>T (p.His44Tyr) (rs587777728)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Klein lab,Ludwig-Maximilians-University RCV000170602 SCV000223154 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
CeGaT Praxis fuer Humangenetik Tuebingen RCV001092960 SCV001249717 pathogenic not provided 2019-06-01 criteria provided, single submitter clinical testing
OMIM RCV000144163 SCV000189243 pathogenic Severe congenital neutropenia 6, autosomal recessive 2014-09-01 no assertion criteria provided literature only

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