ClinVar Miner

Submissions for variant NM_006610.4(MASP2):c.1731A>C (p.Gln577His)

gnomAD frequency: 0.00130  dbSNP: rs144471433
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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 RCV000364354 SCV000347185 likely benign Immunodeficiency due to MASP-2 deficiency 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000971098 SCV001118716 benign not provided 2018-07-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000971098 SCV005262632 likely benign not provided criteria provided, single submitter not provided

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