ClinVar Miner

Variants in gene MAN2B1

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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
151 181 442 855 74 5 1533

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Deficiency of alpha-mannosidase 147 176 402 821 53 5 1458
not provided 14 8 38 42 36 0 130
Inborn genetic diseases 4 1 42 2 0 0 49
not specified 0 0 11 9 15 0 31
MAN2B1-related condition 0 1 1 18 2 0 22
Intellectual disability 1 0 0 3 0 0 4
Craniosynostosis syndrome; Intellectual disability 1 0 0 0 0 0 1
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 1 0 0 0 0 0 1
Myoepithelial tumor 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 54
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 124 45 279 810 40 0 1298
Genome-Nilou Lab 49 8 13 28 11 0 109
Natera, Inc. 14 2 48 18 25 0 107
Illumina Laboratory Services, Illumina 1 1 71 7 18 0 98
Baylor Genetics 23 52 3 0 0 0 78
GeneDx 7 1 13 20 33 0 74
Counsyl 4 43 11 2 0 0 60
Ambry Genetics 4 1 42 2 0 0 49
Myriad Genetics, Inc. 2 46 0 0 0 0 48
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 15 7 11 2 6 0 41
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 36 0 0 0 36
Mayo Clinic Laboratories, Mayo Clinic 0 1 12 6 11 0 30
Eurofins Ntd Llc (ga) 5 0 13 3 7 0 28
Fulgent Genetics, Fulgent Genetics 3 4 13 3 4 0 27
PreventionGenetics, part of Exact Sciences 0 1 1 18 6 0 26
CeGaT Center for Human Genetics Tuebingen 1 4 4 15 1 0 25
Revvity Omics, Revvity 6 1 5 0 0 0 12
Clinical Genetics, Academic Medical Center 0 0 0 0 11 0 11
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 9 0 0 9
OMIM 7 0 0 0 0 0 7
Genetic Services Laboratory, University of Chicago 1 1 0 4 0 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 3 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 5 0 0 5
GeneReviews 0 0 0 0 0 5 5
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 2 0 3 0 0 5
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 1 2 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 2 0 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 3 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 0 0 0 0 0 3
MGZ Medical Genetics Center 2 1 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 0 0 0 0 3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 3 0 0 3
Centogene AG - the Rare Disease Company 1 1 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 2 0 0 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 0 0 0 0 0 2
3billion 1 0 1 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 0 1 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Caryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Sharon lab, Hadassah-Hebrew University Medical Center 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 1
NxGen MDx 0 1 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
DASA 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 0 1

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