ClinVar Miner

Submissions for variant NM_006610.4(MASP2):c.1316G>A (p.Arg439His)

gnomAD frequency: 0.02961  dbSNP: rs12085877
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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 RCV000318612 SCV000347190 likely benign Immunodeficiency due to MASP-2 deficiency 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000961253 SCV001108291 benign not provided 2018-12-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000961253 SCV005262654 likely benign not provided criteria provided, single submitter not provided

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