ClinVar Miner

Variants studied for Marfan syndrome

Included ClinVar conditions (9):
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
798 758 898 265 121 3 2624

Gene and significance breakdown #

Total genes and gene combinations: 18
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FBN1 756 743 737 201 89 3 2320
TGFBR2 20 2 79 36 14 0 143
TMPO 0 0 61 22 17 0 100
FBN1, LOC113939944 17 11 8 4 1 0 39
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, 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
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

Submitter and significance breakdown #

Total submitters: 52
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 495 164 500 158 74 0 1391
Center for Medical Genetics Ghent,University of Ghent 172 352 175 14 0 0 712
Illumina Clinical Services Laboratory,Illumina 0 0 190 97 65 0 348
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 52 85 0 0 0 0 137
Center for Human Genetics, Inc,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
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 Russian Research Center 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 13 0 0 0 29
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
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 6 8 2 0 0 0 16
Institute of Human Genetics,Cologne University 3 4 1 0 0 0 8
Baylor Genetics 2 0 3 0 0 0 5
Division of Genomic Diagnostics,The 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
Zhou Lab, Center of Laboratory Medicine,Fuwai Hospital 5 0 0 0 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
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 2 0 0 0 0 3
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
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
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 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
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
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
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
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

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