ClinVar Miner

Variants studied for Microphthalmia, syndromic 12

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 total
6 9 19 10 9 50

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
RARB 6 9 18 10 9 49
NGLY1, RARB, TOP2B 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 2 1 15 9 9 36
OMIM 4 0 0 0 0 4
Baylor Genetics 0 1 1 0 0 2
Fulgent Genetics, Fulgent Genetics 1 0 0 1 0 2
CHU Sainte-Justine Research Center, University of Montreal 0 2 0 0 0 2
Revvity Omics, Revvity 1 0 0 0 0 1
Human Developmental Genetics Laboratory, Medical College of Wisconsin 0 0 1 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 1
Genetics Department, University Hospital of Toulouse 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 1
3billion 1 0 0 0 0 1

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