ClinVar Miner

Variants studied for Microcephalic primordial dwarfism, Alazami type

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
23 16 11 1 0 46

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
LARP7, MIR302CHG 16 10 5 0 29
LARP7 5 6 6 1 15
CTNNB1, LOC126806659 1 0 0 0 1
LARP7, MIR302CHG, MIR302D, MIR367 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
Revvity Omics, Revvity 2 3 2 0 7
OMIM 5 0 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 1 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 3 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 2 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 3 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 2 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 2 0 0 0 2
Undiagnosed Diseases Network, NIH 0 2 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 2
3billion 0 0 1 1 2
Baylor Genetics 0 0 1 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 1
Mendelics 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 1
Clinical Genetics Service, Universitary Hospital 12 de Octubre 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 1

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