ClinVar Miner

Variants studied for Marfan syndrome

Included ClinVar conditions (10):
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
1031 804 1136 401 121 5 3244

Gene and significance breakdown #

Total genes and gene combinations: 20
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FBN1 986 785 924 322 89 5 2870
TMPO 0 0 107 35 17 0 159
TGFBR2 20 4 81 36 14 0 146
FBN1, LOC113939944 21 12 11 5 1 0 46
COL5A2 0 0 4 0 0 0 4
FBN2 0 1 1 0 0 0 2
LTBP2 1 0 1 0 0 0 2
MYH11 0 0 2 0 0 0 2
NOTCH1 0 0 1 1 0 0 2
TGFBR1 1 0 0 1 0 0 2
CEP152, FBN1, FBN1-DT, 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
COL9A1 0 0 0 1 0 0 1
CTXN2, DUT, FBN1, MYEF2, SEMA6D, SLC12A1, SLC24A5 1 0 0 0 0 0 1
CTXN2, DUT, FBN1, MYEF2, SLC12A1, SLC24A5 1 0 0 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
TGFB2 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 61
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 737 203 744 298 74 0 2053
Center for Medical Genetics Ghent,University of Ghent 172 352 175 14 0 0 712
Illumina Clinical Services Laboratory,Illumina 0 1 190 97 65 0 349
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 53 85 0 0 0 0 138
Center for Human Genetics, Inc,Center for Human Genetics, Inc 33 34 23 17 0 0 107
Integrated Genetics/Laboratory Corporation of America 6 41 20 7 15 0 89
Blueprint Genetics 9 35 13 1 0 0 58
OMIM 48 0 1 0 0 0 49
Mendelics 15 13 8 6 7 0 49
Sangiuolo Lab - Medical Genetics Laboratory, Tor Vergata University 25 21 1 0 0 0 47
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 33 6 2 0 0 0 41
Fulgent Genetics,Fulgent Genetics 11 3 21 0 0 0 35
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 7 9 15 0 0 0 31
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 8 12 2 0 0 0 22
CSER _CC_NCGL, University of Washington 0 0 14 6 1 0 21
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 9 5 5 0 0 0 19
Institute of Human Genetics,University Medical Center Hamburg-Eppendorf 12 6 0 0 0 0 18
Baylor Genetics 4 3 7 0 0 0 14
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 3 2 7 0 0 0 12
Institute of Human Genetics,Cologne University 3 5 1 0 0 0 9
Institute of Human Genetics, University of Leipzig Medical Center 2 3 3 0 0 0 8
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 2 0 3 0 5
Center of Genomic medicine, Geneva,University Hospital of Geneva 3 2 0 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Zhou Lab, Center of Laboratory Medicine,Fuwai Hospital 5 0 0 0 0 0 5
Johns Hopkins Genomics, Johns Hopkins University 1 1 2 1 0 0 5
Elahi Laboratory, University of Tehran 2 0 1 0 0 0 3
Institute of Human Genetics, Klinikum rechts der Isar 3 0 0 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 2 0 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 1 0 1 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 0 0 0 2
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 2 0 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 2 0 0 0 2
Undiagnosed Diseases Network,NIH 1 1 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 2
MNM Diagnostics 1 0 0 1 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Health in Code S.L. 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Area of Clinical and Molecular Genetics,Hospital Universitario Vall de Hebron 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
Biologia e Medicina Molecolare, Sapienza University of Rome 1 0 0 0 0 0 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
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 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
Center of Excellence for Medical Genomics, Chulalongkorn University 1 0 0 0 0 0 1
Health Biotechnology Lab, Department of Biotechnology,Abdul Wali Khan University Mardan 0 1 0 0 0 0 1
Shen lab, Institute for Cardiovascular Science,Soochow University 0 1 0 0 0 0 1
Division of Clinical Genetics, Department of Laboratory Medicine,University of Debrecen 1 0 0 0 0 0 1

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