ClinVar Miner

Variants studied for Moyamoya disease 2

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 risk factor total
5 10 45 8 2 3 68

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 benign risk factor total
RNF213 5 9 41 7 2 3 62
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

Submitter and significance breakdown #

Total submitters: 21
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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
Fulgent Genetics, Fulgent Genetics 0 0 0 7 1 0 8
Mendelics 4 0 1 0 1 0 6
New York Genome Center 0 0 4 0 0 1 5
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
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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 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
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 0 1 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 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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