ClinVar Miner

Variants in gene MMP2

Minimum submission review status: Collection method:
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Gene type:
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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 association not provided total
20 12 180 132 73 1 1 389

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
not provided 9 5 83 124 68 0 1 279
Multicentric osteolysis nodulosis arthropathy spectrum 7 3 64 9 25 0 0 108
Inborn genetic diseases 0 0 56 2 0 0 0 58
Multicentric osteolysis, nodulosis, and arthropathy 9 2 5 1 0 0 0 16
MMP2-related disorder 0 1 0 5 2 0 0 8
not specified 0 0 0 3 2 0 0 5
Multicentric Osteolysis-Nodulosis-Arthropathy (MONA) Spectrum Disorders 0 0 2 0 0 0 0 2
Familial hypokalemia-hypomagnesemia 0 1 0 0 0 0 0 1
Lip and oral cavity carcinoma 0 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Labcorp Genetics (formerly Invitae), Labcorp 5 3 73 118 32 0 0 231
Illumina Laboratory Services, Illumina 0 0 59 9 25 0 0 93
Ambry Genetics 0 0 56 2 0 0 0 58
Breakthrough Genomics, Breakthrough Genomics 0 0 2 4 41 0 0 47
GeneDx 0 0 5 0 41 0 0 46
Eurofins Ntd Llc (ga) 3 0 7 3 0 0 0 13
CeGaT Center for Human Genetics Tuebingen 1 0 0 7 1 0 0 9
PreventionGenetics, part of Exact Sciences 0 1 0 5 2 0 0 8
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 4 1 1 0 0 0 0 6
Genome-Nilou Lab 0 0 0 0 6 0 0 6
OMIM 5 0 0 0 0 0 0 5
Fulgent Genetics, Fulgent Genetics 0 0 4 1 0 0 0 5
Baylor Genetics 1 0 3 0 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 1 0 2 0 0 0 0 3
Revvity Omics, Revvity 2 0 0 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 2 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 2 0 0 0 0 0 2
Mendelics 1 0 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 0 1
Department of Biological Science, Sunandan Divatia School of Science, NMIMS University 0 0 0 0 0 1 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 0 1
Genetic Diseases Diagnostic Center, Koc University Hospital 0 1 0 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 1 0 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 0 0 0 1
3billion 0 0 0 1 0 0 0 1

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