ClinVar Miner

Variants studied for Beta-D-mannosidosis

Coded as:
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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 not provided total
72 48 206 355 39 1 684

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MANBA 69 46 185 319 39 1 624
LOC129992886, MANBA 2 1 19 35 0 0 55
ADGRV1 0 0 1 0 0 0 1
BANK1, BDH2, CENPE, CISD2, MANBA, NFKB1, PPP3CA, SLC39A8, SLC9B1, SLC9B2, TACR3, UBE2D3 1 0 0 0 0 0 1
CDH23 0 0 1 0 0 0 1
DIAPH1 0 0 0 1 0 0 1
FAH 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 66 20 164 344 31 0 625
Illumina Laboratory Services, Illumina 0 0 41 8 18 0 67
Fulgent Genetics, Fulgent Genetics 3 19 8 0 0 0 30
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 10 0 0 0 0 17
OMIM 9 0 0 0 0 0 9
Revvity Omics, Revvity 0 3 3 0 0 0 6
Genome-Nilou Lab 0 0 0 0 6 0 6
Baylor Genetics 0 1 3 0 0 0 4
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 1 2 1 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 0 1 0 0 0 3
3billion, Medical Genetics 0 1 0 2 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 2 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 1 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Center for Statistical Genetics, Columbia University 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
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 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
Breda Genetics srl 0 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1

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