ClinVar Miner

Variants studied for acrofacial dysostosis

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 not provided total
180 57 292 195 238 2 956

Gene and significance breakdown #

Total genes and gene combinations: 16
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
EVC2 52 13 25 82 63 0 234
EVC 28 17 30 83 33 0 190
PDE4D 11 2 76 6 51 0 146
LMBR1 0 0 51 5 55 0 111
DHODH 9 1 49 10 16 0 83
FAM20A, PRKAR1A 4 1 39 1 6 0 51
EFTUD2 22 8 5 0 3 0 38
EFNB1 16 12 2 0 1 0 30
SF3B4 23 0 1 0 0 0 24
PRKAR1A 0 1 8 4 7 0 20
LMBR1, ZRS 10 0 0 0 0 0 10
POLR1A 3 0 3 1 0 0 7
EVC, EVC2 1 0 0 3 3 0 6
ZSWIM6 1 1 2 0 0 2 4
DEPDC1B, PART1, PDE4D 0 0 1 0 0 0 1
PTCH1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 77 28 44 165 97 0 411
Illumina Clinical Services Laboratory,Illumina 1 1 228 30 137 0 397
OMIM 65 0 0 0 0 0 65
Clinical Genetics Research Group, University of Calgary 18 0 0 0 0 0 18
Genetic Services Laboratory,University of Chicago 11 2 0 0 0 0 13
Fulgent Genetics,Fulgent Genetics 2 2 3 0 0 0 7
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 5 0 0 0 7
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 1 2 1 0 1 0 5
Institute of Human Genetics, University of Leipzig Medical Center 0 1 4 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 4 0 0 0 4
Department of Medical Genetics, Oslo University Hospital 0 4 0 0 0 0 4
Service de Génétique Moléculaire,Hôpital Robert Debré 0 4 0 0 0 0 4
Mendelics 1 0 0 1 1 0 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 3 0 3
Baylor Genetics 1 0 1 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 2 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 0 1
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 1 0 0 0 0 1
Institute of Human Genetics,Cologne University 0 1 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 1 0 0 0 0 0 1
Gene Discovery Core-Manton Center,Boston Children's Hospital 0 1 0 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 0 0 0 0 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 1 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Klinisk genetik och genomik Research,Gothenburg University 0 1 0 0 0 0 1
Genomics, and Precision Dentistry Research Unit, Faculty of Dentistry, Chulalongkorn University 1 0 0 0 0 0 1
Department of Pediatrics,The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University 0 1 0 0 0 0 1
CNRS UMR1283,Université de Lille 1 0 0 0 0 0 1

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