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
32 53 119 29 22 222

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Deficiency of alpha-mannosidase 24 52 103 15 10 183
not provided 7 1 17 8 20 52
not specified 0 0 2 8 8 14
Inborn genetic diseases 3 1 0 0 0 4
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 6 48 18 2 0 74
Illumina Clinical Services Laboratory,Illumina 2 1 36 10 3 52
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 41 0 0 41
Invitae 8 2 11 3 7 31
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 6 0 13 3 7 29
GeneDx 1 1 3 2 15 22
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 4 6 11 21
Integrated Genetics/Laboratory Corporation of America 7 1 0 0 4 12
OMIM 7 0 0 0 0 7
GeneReviews 5 0 0 0 0 5
Genetic Services Laboratory, University of Chicago 0 0 0 4 0 4
Ambry Genetics 3 1 0 0 0 4
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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 3 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 3 3
Baylor Genetics 1 0 1 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 2 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 1
Division of Genomic Diagnostics,The 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 Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 1

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