ClinVar Miner

Variants studied for acrofacial dysostosis

Included ClinVar conditions (11):
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
96 13 116 98 99 1 410

Gene and significance breakdown #

Total genes and gene combinations: 12
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
EVC 5 2 54 76 56 0 183
DHODH 9 0 39 7 5 0 59
EVC2 10 2 10 3 27 0 52
SF3B4 23 0 6 9 4 0 42
EFNB1 15 5 2 0 1 0 23
EFTUD2 15 2 1 0 3 0 21
PDE4D 11 0 1 0 0 0 12
EVC, EVC2 0 0 0 3 3 0 5
FAM20A, PRKAR1A 4 1 0 0 0 0 5
POLR1A 3 0 1 0 0 0 4
ZSWIM6 1 1 1 0 0 1 3
DEPDC1B, PART1, PDE4D 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 1 0 90 94 54 0 239
Invitae 8 3 15 7 45 0 78
OMIM 56 0 0 0 0 0 56
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 2 2 3 0 0 0 7
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 1 2 1 0 1 0 5
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 4 0 0 0 4
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 3 0 3
Baylor Miraca Genetics Laboratories, 1 0 1 0 0 0 2
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 1 0 0 0 0 2
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 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
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
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
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.