ClinVar Miner

Variants studied for Imerslund-Grasbeck syndrome

Included ClinVar conditions (4):
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
121 191 1146 1007 192 5 2492

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CUBN 84 139 987 586 158 3 1811
AMN 28 38 115 322 26 1 514
AMN, LOC130056554 5 7 20 67 1 0 98
CUBN, LOC126860871 1 2 10 11 3 0 26
AMN, LOC130056553 1 3 2 17 2 0 23
CUBN, LOC129390143 0 1 11 4 2 0 17
AMN, CDC42BPB, LOC130056553 1 1 0 0 0 1 1
AMN, LOC126862065, LOC130056550, LOC130056551, LOC130056552, LOC130056553, LOC130056554, TRAF3 1 0 0 0 0 0 1
CACNB2, CUBN, HACD1, SLC39A12, ST8SIA6, STAM, TRDMT1, VIM 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 41
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 95 41 598 956 172 0 1862
Fulgent Genetics, Fulgent Genetics 17 93 611 71 4 0 796
Illumina Laboratory Services, Illumina 0 0 219 34 78 0 331
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 49 0 0 0 0 49
Genome-Nilou Lab 0 0 0 0 28 0 28
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 5 9 11 0 0 0 25
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 2 8 0 13
OMIM 13 0 0 0 0 0 13
First Genomix Gene Laboratory, Genetic Diagnostics Department 2 7 0 0 0 0 9
MVZ Medizinische Genetik Mainz 5 2 2 0 0 0 9
3billion 3 2 3 0 0 0 8
Baylor Genetics 0 0 7 0 0 0 7
Department of Pathology and Laboratory Medicine, Sinai Health System 0 3 3 0 0 0 6
SingHealth Duke-NUS Institute of Precision Medicine 0 2 3 0 0 0 5
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 4 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 2 0 0 0 4
New York Genome Center 0 0 4 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 2 0 0 0 4
Inserm U 954, Faculté de Médecine de Nancy 0 0 0 0 0 3 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 2 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 2 1 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 1 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 2 0 0 0 0 2
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 2 0 0 0 0 0 2
MGZ Medical Genetics Center 0 1 1 0 0 0 2
Mendelics 0 0 2 0 0 0 2
Revvity Omics, Revvity 1 0 1 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 0 0 0 1
Department of Hematology, Children's Hospital Affiliated to Kunming Medical University 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain) 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Variantyx, Inc. 0 1 0 0 0 0 1

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