ClinVar Miner

Submissions for variant NM_006610.4(MASP2):c.*225T>C

gnomAD frequency: 0.69325  dbSNP: rs1033638
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000392886 SCV000347180 benign Immunodeficiency due to MASP-2 deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000368372 SCV000482907 benign Amyotrophic Lateral Sclerosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000400242 SCV000482908 benign Frontotemporal dementia 2016-06-14 criteria provided, single submitter clinical testing

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