ClinVar Miner

Submissions for variant NM_005263.5(GFI1):c.1208A>G (p.Lys403Arg) (rs28936382)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986339 SCV001135314 likely benign Severe congenital neutropenia 2, autosomal dominant 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000009279 SCV000029497 pathogenic Neutropenia, nonimmune chronic idiopathic, of adults 2003-07-01 no assertion criteria provided literature only

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