ClinVar Miner

Variants in gene MAN2B1

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 total
80 90 210 198 44 523

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Deficiency of alpha-mannosidase 70 88 194 176 35 479
not provided 9 3 20 33 20 84
not specified 0 0 4 8 8 16
Inborn genetic diseases 4 0 0 0 0 4
Intellectual disability 1 0 0 3 0 4
Craniosynostosis syndrome; Intellectual disability 1 0 0 0 0 1
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 56 11 43 177 24 311
Illumina Clinical Services Laboratory,Illumina 2 1 81 7 18 109
Counsyl 5 48 18 2 0 73
Natera, Inc. 6 1 30 6 20 63
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 41 0 0 41
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 6 0 13 3 7 29
GeneDx 1 1 3 2 15 22
Mayo Clinic Laboratories, Mayo Clinic 0 1 4 6 11 22
Myriad Women's Health, Inc. 1 21 0 0 0 22
Integrated Genetics/Laboratory Corporation of America 12 3 2 0 4 21
Baylor Genetics 4 1 3 0 0 8
OMIM 7 0 0 0 0 7
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 1 0 0 3 5
GeneReviews 5 0 0 0 0 5
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 2 0 3 0 5
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 3 1 0 5
Genetic Services Laboratory, University of Chicago 0 0 0 4 0 4
Ambry Genetics 4 0 0 0 0 4
PreventionGenetics, PreventionGenetics 0 0 0 0 4 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 1 2 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 2 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 3 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 0 0 0 3
Centogene AG - the Rare Disease Company 1 1 0 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 2 0 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Department of Medical Genetics, Oslo University Hospital 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 1
Sharon lab,Hadassah-Hebrew University Medical Center 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 1

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