ClinVar Miner

Variants studied for Moyamoya disease 2

Coded as:
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Gene type:
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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 risk factor total
5 11 65 9 2 3 90

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 risk factor total
RNF213 5 10 60 8 2 3 83
LOC126862663, RNF213 0 1 2 1 0 0 4
ENDOV, LOC130061908, MIR4730, RNF213 0 0 1 0 0 0 1
ENG 0 0 1 0 0 0 1
LOC126862664, RNF213 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
UMR-S1161, Institut national de la santé et de la recherche médicale 0 2 21 0 0 0 23
Department of Internal Medicine, University of Texas Health Science Center at Houston 0 3 9 0 0 0 12
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 12 0 0 0 12
Fulgent Genetics, Fulgent Genetics 0 0 2 7 1 0 10
Neuberg Centre For Genomic Medicine, NCGM 0 0 7 1 0 0 8
Mendelics 4 0 1 0 1 0 6
New York Genome Center 0 0 4 0 0 1 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 2 0 0 0 3
OMIM 0 0 0 0 0 2 2
Baylor Genetics 0 0 2 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 0 0 2
GOSgene, University College London Great Ormond Street Institute of Child Health 0 1 1 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 0 1 1 0 0 0 2
3billion 0 1 1 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Department of Medical Genetics, University of Pecs 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 0 1 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1

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