ClinVar Miner

Variants studied for Aneurysm-osteoarthritis syndrome

Coded as:
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
19 31 161 98 17 1 315

Gene and significance breakdown #

Total genes and gene combinations: 3
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SMAD3 18 28 151 93 13 1 294
LOC130057352, SMAD3 1 3 9 5 4 0 20
SMAD6 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
All of Us Research Program, National Institutes of Health 1 5 91 90 6 0 193
Illumina Laboratory Services, Illumina 0 0 47 4 12 0 63
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 5 6 4 0 16
Fulgent Genetics, Fulgent Genetics 1 0 13 0 0 0 14
OMIM 10 0 0 0 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 6 2 0 0 0 10
Genetics Department, University Hospital of Toulouse 5 3 0 0 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 1 2 3 0 0 0 6
Institute of Human Genetics, Cologne University 0 2 2 0 0 0 4
MGZ Medical Genetics Center 0 1 2 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 1 0 0 0 3
deCODE genetics, Amgen 0 3 0 0 0 0 3
Baylor Genetics 1 0 1 0 0 0 2
Centogene AG - the Rare Disease Company 0 0 2 0 0 0 2
Mendelics 0 1 0 0 1 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 0 1
Labcorp Genetics (formerly Invitae), Labcorp 0 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 0 0 0 0 1
Centre of Medical Genetics, University of Antwerp 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
PG23_Medical Genetics Lab, ASST Papa Giovanni XXIII 0 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 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.