ClinVar Miner

Submissions for variant NM_199242.2(UNC13D):c.1299-1G>A (rs1555601863)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical laboratory, Wuhan Children’s Hospital,Tongji Medical College, Huazhong University of Science and Technology RCV000509013 SCV000606730 likely pathogenic Hemophagocytic lymphohistiocytosis, familial, 3 2017-01-16 no assertion criteria provided clinical testing A new splicing mutation in UNC13D gene identified in Chinese patient of HLH3.

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