ClinVar Miner

Variants studied for Marfan 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
348 570 357 150 46 1 1379

Gene and significance breakdown #

Total genes and gene combinations: 15
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FBN1 340 564 297 108 34 1 1253
TGFBR2 0 0 43 37 12 0 92
FBN1, LOC113939944 6 5 4 3 0 0 16
COL5A2 0 0 4 0 0 0 4
LTBP2 1 0 1 0 0 0 2
MYH11 0 0 2 0 0 0 2
NOTCH1 0 0 1 1 0 0 2
CEP152, FBN1, LOC113939944 1 0 0 0 0 0 1
COL3A1 0 0 1 0 0 0 1
COL5A1, LOC101448202 0 0 1 0 0 0 1
FBN2 0 0 1 0 0 0 1
FLNA 0 0 1 0 0 0 1
KCNQ1 0 1 0 0 0 0 1
MYLK 0 0 1 0 0 0 1
TGFBR1 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 38
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Center for Medical Genetics Ghent,University of Ghent 172 352 175 14 0 0 712
Illumina Clinical Services Laboratory,Illumina 0 0 103 124 31 0 258
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 50 82 0 0 0 0 132
Center for Human Genetics, Inc 33 34 23 17 0 0 107
Integrated Genetics/Laboratory Corporation of America 6 44 22 8 15 0 95
Invitae 49 25 0 0 0 0 74
Blueprint Genetics, 9 35 13 1 0 0 58
OMIM 31 0 1 0 0 0 32
CSER_CC_NCGL; University of Washington Medical Center 0 0 14 6 1 0 21
Institute of Human Genetics,University Medical Center Hamburg-Eppendorf 12 6 0 0 0 0 18
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 7 2 5 0 0 0 14
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 3 6 1 0 0 0 10
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 3 1 2 0 0 0 6
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 2 0 3 0 5
Zhou Lab, Center of Laboratory Medicine,Fuwai Hospital 5 0 0 0 0 0 5
Baylor Miraca Genetics Laboratories, 3 0 1 0 0 0 4
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 2 0 0 0 0 4
Institute of Human Genetics,Cologne University 1 1 1 0 0 0 3
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 3 0 0 0 0 0 3
Elahi Laboratory, University of Tehran 2 0 1 0 0 0 3
Department of Medical Genetics,Gazi University 3 0 0 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 1 1 1 0 0 3
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 2 0 0 0 2
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 1 0 0 0 0 2
Health in Code S.L. 1 0 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 1 0 0 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 1
RBHT Clinical Genetics and Genomics Laboratory,Royal Brompton and Harefield NHS Foundation Trust 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity,Peking Union Medical College Hospital 1 0 0 0 0 0 1
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 0 0 0 1 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 0 1
Medical Genetics,Necip Fazıl Sehir Hastanesi 1 0 0 0 0 0 1
Center of Clinical Laboratory, Zhongshan Hospital,School of Medicine, Xiamen 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.