ClinVar Miner

Variants studied for Deficiency of alpha-mannosidase

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
187 272 531 959 55 8 1803

Gene and significance breakdown #

Total genes and gene combinations: 8
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MAN2B1 168 242 469 887 54 7 1639
LOC129391064, MAN2B1 7 15 19 30 1 1 62
LOC130063650, MAN2B1 5 10 29 25 0 0 60
LOC130063648, MAN2B1 4 4 13 17 0 0 37
MAN2B1, WDR83, WDR83OS 2 0 0 0 0 0 2
ACP5, ANGPTL8, BEST2, C19orf38, CACNA1A, CALR, CARM1, CCDC159, CNN1, DAND5, DHPS, DNASE2, DNM2, DOCK6, ECSIT, ELAVL3, ELOF1, EPOR, FARSA, FBXW9, GADD45GIP1, GCDH, GET3, HOOK2, IER2, JUNB, KANK2, KLF1, LDLR, LYL1, MAN2B1, MAST1, MIR199A1, NACC1, NFIX, ODAD3, PRDX2, PRKCSH, RAB3D, RAD23A, RGL3, RNASEH2A, RTBDN, SMARCA4, SPC24, STX10, SWSAP1, SYCE2, TIMM29, TMED1, TMEM205, TNPO2, TRIR, TRMT1, TSPAN16, WDR83, WDR83OS, YIPF2, ZNF136, ZNF20, ZNF433, ZNF439, ZNF44, ZNF440, ZNF441, ZNF442, ZNF443, ZNF490, ZNF491, ZNF563, ZNF564, ZNF625, ZNF627, ZNF653, ZNF69, ZNF700, ZNF709, ZNF763, ZNF791, ZNF799, ZNF823, ZNF844, ZNF878 0 0 1 0 0 0 1
LOC130063648, LOC130063649, MAN2B1 0 1 0 0 0 0 1
MAN2B1, ZNF564 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 57
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 153 55 319 943 41 0 1511
Natera, Inc. 27 66 129 21 25 0 268
Genome-Nilou Lab 55 10 17 30 11 0 123
Baylor Genetics 35 74 4 0 0 0 113
Illumina Laboratory Services, Illumina 2 1 74 7 18 0 102
Counsyl 4 48 18 2 0 0 72
Fulgent Genetics, Fulgent Genetics 12 30 17 3 4 0 66
Myriad Genetics, Inc. 3 53 0 0 0 0 56
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 40 0 0 1 41
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 22 14 0 0 0 0 36
Revvity Omics, Revvity 9 1 7 0 0 0 17
OMIM 7 0 0 0 0 0 7
3billion 1 2 1 1 0 0 5
GeneReviews 0 0 0 0 0 5 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 4 0 1 0 0 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 3 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 2 0 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 1 3 0 0 0 4
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 2 2 0 0 0 0 4
Variantyx, Inc. 2 2 0 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 3 0 3
Dubai Health Genomic Medicine Center, Dubai Health 0 3 0 0 0 0 3
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 2 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 0 0 0 0 0 3
MGZ Medical Genetics Center 2 1 0 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 1 1 0 0 1 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 0 0 0 0 3
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 1 0 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 2 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Molecular Genetics Lab, CHRU Brest 1 1 0 0 0 0 2
Biochemistry And Molecular Medicine, Center For Genetics And Inherited Diseases, Taibah University 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Dasa 0 1 0 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 0 1 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Laboratory of Prof. Karen Avraham, Tel Aviv University 0 1 0 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Mendelics 1 0 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 1
NxGen MDx 0 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 0 0 1
Sharon lab, Hadassah-Hebrew University Medical Center 1 0 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 1 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.