ClinVar Miner

Variants studied for intracranial arterial disease

Included ClinVar conditions (12):
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 not provided total
23 14 80 17 3 3 1 136

Gene and significance breakdown #

Total genes and gene combinations: 18
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
RNF213 5 12 48 8 2 3 0 73
ACTA2 4 0 14 3 0 0 1 22
GUCY1A1 9 0 3 0 1 0 0 13
ACTA2, FAS 0 0 3 5 0 0 0 8
LOC126862663, RNF213 0 1 2 1 0 0 0 4
ANO1 3 0 0 0 0 0 0 3
THSD1 1 0 1 0 0 0 0 2
BRCC3 1 0 0 0 0 0 0 1
CCDC180, SUGT1P4-STRA6LP-CCDC180 0 0 1 0 0 0 0 1
ENDOV, LOC130061908, MIR4730, RNF213 0 0 1 0 0 0 0 1
ENG 0 0 1 0 0 0 0 1
EOLA2, MAGEA8, MAMLD1 0 1 0 0 0 0 0 1
FBN2 0 0 1 0 0 0 0 1
FMNL2 0 0 1 0 0 0 0 1
NCBP1 0 0 1 0 0 0 0 1
SYCP1 0 0 1 0 0 0 0 1
TBC1D2 0 0 1 0 0 0 0 1
ZNF782 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
UMR-S1161, Institut national de la santé et de la recherche médicale 0 2 21 0 0 0 0 23
Fulgent Genetics, Fulgent Genetics 2 0 7 8 1 0 0 18
OMIM 14 0 0 0 0 2 0 16
Illumina Laboratory Services, Illumina 0 0 7 7 0 0 0 14
Department of Internal Medicine, University of Texas Health Science Center at Houston 0 3 9 0 0 0 0 12
Neuberg Centre For Genomic Medicine, NCGM 0 0 7 1 0 0 0 8
Mendelics 4 0 1 0 1 0 0 6
Brain Center Rudolf Magnus, University Medical Center Utrecht 0 0 6 0 0 0 0 6
Baylor Genetics 1 0 4 0 0 0 0 5
University of Washington Center for Mendelian Genomics, University of Washington 3 2 0 0 0 0 0 5
New York Genome Center 0 0 4 0 0 1 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 3 0 0 0 0 4
3billion 0 1 2 0 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 1 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 0 0 2
GOSgene, University College London Great Ormond Street Institute of Child Health 0 1 1 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 0 1 1 0 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 1 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 0 1
Revvity Omics, Revvity 1 0 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 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 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 0 1
Institute of Medical Genetics, University of Zurich 1 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 0 1
Department of Medical Genetics, University of Pecs 0 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 0 1
Institut national de la santé et de la recherche médicale, INSERM 0 1 0 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 0 1

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