ClinVar Miner

Submissions for variant NM_006610.4(MASP2):c.*189G>A

gnomAD frequency: 0.00581  dbSNP: rs116311214
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000365495 SCV000347182 uncertain significance Immunodeficiency due to MASP-2 deficiency 2016-06-14 criteria provided, single submitter clinical testing

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