ClinVar Miner

Variants studied for Beta-D-mannosidosis

Coded as:
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
67 33 201 339 39 1 651

Gene and significance breakdown #

Total genes and gene combinations: 7
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MANBA 64 31 180 304 39 1 592
LOC129992886, MANBA 2 1 19 34 0 0 54
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: 25
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 60 19 161 330 31 0 601
Illumina Laboratory Services, Illumina 0 0 41 8 18 0 67
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 9 0 0 0 0 15
OMIM 9 0 0 0 0 0 9
Fulgent Genetics, Fulgent Genetics 1 2 4 0 0 0 7
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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 0 1 0 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
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
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
3billion 0 1 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.