ClinVar Miner

Variants studied for Adams-Oliver syndrome 1

Included ClinVar conditions (3):
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
13 4 26 6 30 1 79

Gene and significance breakdown #

Total genes and gene combinations: 6
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ARHGAP31 3 0 25 6 30 0 63
DLL4 9 0 0 0 0 0 9
DOCK6 0 3 0 0 0 0 3
NOTCH1 1 0 0 0 0 1 2
ARHGAP31, LOC129937303 0 0 1 0 0 0 1
EOGT 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Genome-Nilou Lab 0 0 0 0 30 0 30
Revvity Omics, Revvity 0 0 12 0 0 0 12
Centre of Medical Genetics, University of Antwerp 10 0 0 0 0 0 10
Illumina Laboratory Services, Illumina 0 0 2 3 0 0 5
Baylor Genetics 0 0 3 0 0 0 3
OMIM 2 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 2
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 2 0 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Mendelics 0 0 0 1 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 0 1 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 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.