ClinVar Miner

Variants in gene RNF213

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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 other total
2 12 53 112 122 3 1 289

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor other total
not provided 0 1 18 112 121 0 0 249
Moyamoya disease 2 2 7 33 0 1 3 0 43
Moyamoya angiopathy 0 3 0 0 0 0 0 3
Inborn genetic diseases 0 2 0 0 0 0 0 2
See cases 0 0 2 0 0 0 0 2
Anaplastic ependymoma 0 0 0 0 0 0 1 1
Midaortic syndrome 0 1 0 0 0 0 0 1
Patent foramen ovale; Coronary artery disease; Atrial septal dilatation; Middle cerebral artery stenosis; Carotid artery stenosis; Stroke 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor other total
Invitae 0 1 2 107 121 0 0 231
UMR-S1161,Institut national de la santé et de la recherche médicale 0 2 21 0 0 0 0 23
Department of Internal Medicine, University of Texas Health Science Center at Houston 0 3 9 0 0 0 0 12
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 4 3 0 0 0 7
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 3 2 0 0 0 5
GeneDx 0 0 4 0 0 0 0 4
OMIM 0 0 0 0 0 3 0 3
University of Washington Center for Mendelian Genomics, University of Washington 0 3 0 0 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 3 0 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 0 2
Ambry Genetics 0 2 0 0 0 0 0 2
Mendelics 1 0 0 0 1 0 0 2
Lineagen, Inc 0 0 2 0 0 0 0 2
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 0 0 0 0 0 1 1
Yale Center for Mendelian Genomics,Yale University 0 1 0 0 0 0 0 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

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