ClinVar Miner

Variants studied for Imerslund-Grasbeck syndrome type 1

Coded as:
Minimum submission review status: Collection method:
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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 total
16 5 232 34 85 371

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CUBN 14 5 229 34 82 363
CUBN, LOC126860871 0 0 1 0 2 3
AMN 1 0 1 0 0 2
CUBN, LOC129390143 0 0 1 0 1 2
AMN, CDC42BPB, LOC130056553 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 219 34 78 331
Genome-Nilou Lab 0 0 0 0 28 28
Baylor Genetics 0 0 7 0 0 7
OMIM 6 0 0 0 0 6
MVZ Medizinische Genetik Mainz 3 1 1 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 2 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 3 0 0 4
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 3 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 0 1 0 0 3
MGZ Medical Genetics Center 0 1 1 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 1 0 0 2
New York Genome Center 0 0 2 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 1

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