ClinVar Miner

Variants in gene MASP2

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
1 3 74 13 19 1 103

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Immunodeficiency due to MASP-2 deficiency 1 2 38 6 15 0 58
not specified 0 0 36 2 3 0 41
not provided 0 2 5 6 16 1 28
MASP2-related disorder 0 0 3 3 5 0 11

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 1 30 6 15 0 52
Ambry Genetics 0 0 36 2 0 0 38
Breakthrough Genomics, Breakthrough Genomics 0 0 2 3 15 0 20
PreventionGenetics, part of Exact Sciences 0 0 3 3 5 0 11
Labcorp Genetics (formerly Invitae), Labcorp 0 0 0 2 8 0 10
CeGaT Center for Human Genetics Tuebingen 0 0 0 5 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 0 4
Baylor Genetics 0 0 2 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 2 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 1 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 2 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 0 0 0 2
New York Genome Center 0 1 1 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
OMIM 1 0 0 0 0 0 1
GeneDx 0 0 0 0 1 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 0 1 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Blueprint Genetics 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
AiLife Diagnostics, AiLife Diagnostics 0 1 0 0 0 0 1
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska" 0 1 0 0 0 0 1

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