ClinVar Miner

Variants studied for Hennekam syndrome

Included ClinVar conditions (5):
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
16 0 197 29 72 7 313

Gene and significance breakdown #

Total genes and gene combinations: 3
Download table as spreadsheet
Gene or gene combination pathogenic uncertain significance likely benign benign not provided total
CCBE1 7 160 22 52 5 238
FAT4 6 35 6 17 2 66
ADAMTS3 3 2 1 3 0 9

Submitter and significance breakdown #

Total submitters: 24
Download table as spreadsheet
Submitter pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 151 19 46 0 216
Genome-Nilou Lab 0 0 0 25 0 25
Baylor Genetics 0 16 0 0 0 16
Fulgent Genetics, Fulgent Genetics 0 7 6 2 0 15
OMIM 14 0 0 0 0 14
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 7 0 0 0 7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 3 0 6
UniProtKB/Swiss-Prot 0 0 0 0 5 5
Clinical Genomics Laboratory, Washington University in St. Louis 0 5 0 0 0 5
Revvity Omics, Revvity 0 2 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 0 0 0 2
Molecular Genetics Lab, CHRU Brest 0 2 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 2 0 0 0 2
Institute of Human Genetics, University of Goettingen 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 1
Mendelics 0 0 0 1 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 1
GenomeConnect, ClinGen 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 1 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.