ClinVar Miner

Variants in gene MMP21

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 total
16 13 80 23 9 131

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Inborn genetic diseases 0 0 62 3 0 65
not provided 4 5 12 10 8 36
Heterotaxy, visceral, 7, autosomal 14 7 5 1 1 27
MMP21-related disorder 0 3 6 10 0 19
Visceral heterotaxy 0 2 0 0 0 2

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Ambry Genetics 0 0 62 3 0 65
PreventionGenetics, part of Exact Sciences 0 3 6 10 0 19
GeneDx 2 5 9 0 1 17
Labcorp Genetics (formerly Invitae), Labcorp 0 0 0 6 7 13
OMIM 12 0 0 0 0 12
CeGaT Center for Human Genetics Tuebingen 0 1 3 4 0 8
Breakthrough Genomics, Breakthrough Genomics 0 0 0 0 4 4
Revvity Omics, Revvity 0 2 1 0 0 3
Baylor Genetics 0 0 2 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 0 0 2
Institute of Human Genetics, Cologne University 0 1 1 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 1 0 2
Fulgent Genetics, Fulgent Genetics 0 0 1 1 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 1 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 1
Eurofins Ntd Llc (ga) 0 1 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 1

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