ClinVar Miner

Variants studied for MIRAGE syndrome

Included ClinVar conditions (3):
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 not provided total
6 11 26 7 0 4 50

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign not provided total
SAMD9 6 11 26 7 4 50

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign not provided total
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 12 0 0 12
Fulgent Genetics, Fulgent Genetics 0 0 2 5 0 7
Baylor Genetics 0 3 1 0 0 4
GeneReviews 0 0 0 0 4 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 1 0 4
OMIM 3 0 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 2 0 0 3
New York Genome Center 0 0 3 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 1
Pediatric Genomics Discovery Program, Yale University 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 0 1 0 1
Coyote Medical Laboratory (Beijing), Coyote 0 1 0 0 0 1
Diagnostic and Treatment Unit for Congenital Metabolic Diseases, Hopital Clínico Universitario de Santiago de Compostela (CHUS) 0 1 0 0 0 1

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