ClinVar Miner

Variants in gene MAN1B1

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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
29 24 255 226 70 1 524

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Rafiq syndrome 26 13 175 171 42 0 388
Inborn genetic diseases 2 2 85 50 16 0 155
not provided 7 11 33 38 43 0 121
not specified 0 0 21 15 5 0 41
MAN1B1-related disorder 1 0 1 17 1 0 20
Intellectual Disability, Recessive 0 0 1 1 1 0 3
Intellectual disability 0 0 0 3 0 0 3
See cases 1 1 0 0 0 0 2
MAN1B1-congenital disorder of glycosylation 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 14 1 98 164 40 0 317
Ambry Genetics 2 2 85 50 16 0 155
Illumina Laboratory Services, Illumina 1 0 68 15 21 0 105
GeneDx 6 7 15 8 27 0 63
Genetic Services Laboratory, University of Chicago 0 1 26 13 5 0 45
CeGaT Center for Human Genetics Tuebingen 0 3 2 23 14 0 42
Breakthrough Genomics, Breakthrough Genomics 0 0 4 7 24 0 35
PreventionGenetics, part of Exact Sciences 0 0 1 17 1 0 19
Baylor Genetics 3 0 15 0 0 0 18
OMIM 10 0 0 0 0 0 10
Eurofins Ntd Llc (ga) 0 0 5 2 0 0 7
Fulgent Genetics, Fulgent Genetics 0 0 5 1 0 0 6
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 2 4 0 0 6
New York Genome Center 0 0 5 0 0 0 5
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 3 1 0 0 0 4
Revvity Omics, Revvity 0 0 3 0 0 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 3 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 2 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 0 0 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 1 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 0 1 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 0 0 1 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 1 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Centre for Arab Genomic Studies, Sheikh Hamdan Award for Medical Sciences 0 1 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
3billion 0 1 0 0 0 0 1
Service de Biologie Medicale, CIUSSS du Saguenay-Lac-Saint-Jean 1 0 0 0 0 0 1

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