ClinVar Miner

Variants studied for Marfan and Marfan-related disorder

Included ClinVar conditions (22):
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
768 789 1486 444 155 6 3440

Gene and significance breakdown #

Total genes and gene combinations: 28
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FBN1 649 709 611 139 38 3 1995
FBN2 15 16 353 120 34 0 518
SMAD3 15 8 88 39 16 1 163
TGFBR2 21 17 61 37 15 2 144
SKI 14 6 91 16 11 0 132
TGFBR1 11 7 66 40 10 0 130
TGFB2 10 7 49 17 18 0 94
TGFB3 12 7 58 9 0 0 85
TMPO 0 0 47 4 2 0 53
SMAD6 0 0 31 8 4 0 43
FBN1, LOC113939944 15 10 7 4 0 0 34
TGFB2, TGFB2-OT1 0 0 5 10 7 0 22
COL5A2 0 0 5 0 0 0 5
KIFBP 5 0 0 0 0 0 5
COL3A1 0 1 2 0 0 0 3
MYH11 0 0 3 0 0 0 3
COL5A1, LOC101448202 0 0 2 0 0 0 2
LTBP2 1 0 1 0 0 0 2
MYLK 0 0 2 0 0 0 2
NOTCH1 0 0 1 1 0 0 2
ACAP3, ACTRT2, AGRN, ANKRD65, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, CALML6, CCNL2, CDK11A, CDK11B, CFAP74, CPTP, DVL1, FAAP20, FNDC10, GABRD, GNB1, HES5, INTS11, MIB2, MIR200A, MIR200B, MIR429, MMEL1, MMP23B, MORN1, MRPL20, MXRA8, NADK, PANK4, PEX10, PLCH2, PRKCZ, PRXL2B, PUSL1, RER1, RNF223, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF18, TNFRSF4, TTC34, TTLL10, UBE2J2, VWA1 0 0 1 0 0 0 1
BPNT1, C1orf115, DUSP10, EPRS1, ESRRG, GPATCH2, HLX, IARS2, KCTD3, LYPLAL1, MARK1, MIR194-1, MIR215, MTARC1, MTARC2, RAB3GAP2, RRP15, SLC30A10, SPATA17, TGFB2, USH2A 1 0 0 0 0 0 1
CEP152, FBN1, LOC113939944 1 0 0 0 0 0 1
CTXN2, DUT, FBN1, MYEF2, SEMA6D, SLC12A1, SLC24A5 1 0 0 0 0 0 1
EPRS1, ESRRG, GPATCH2, LYPLAL1, RRP15, SLC30A10, SPATA17, TGFB2 1 0 0 0 0 0 1
FLNA 0 0 1 0 0 0 1
KCNQ1 0 1 0 0 0 0 1
LOC112577524, SKI 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 69
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 388 148 855 91 21 0 1502
Illumina Clinical Services Laboratory,Illumina 0 0 357 316 87 0 760
Center for Medical Genetics Ghent,University of Ghent 172 352 175 14 0 0 712
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 58 89 0 0 0 0 147
Center for Human Genetics, Inc 36 37 26 18 1 0 118
Integrated Genetics/Laboratory Corporation of America 9 49 23 8 19 0 108
OMIM 101 0 1 0 0 0 102
Blueprint Genetics 9 49 20 1 0 0 79
Mendelics 15 14 8 10 10 0 57
Fulgent Genetics,Fulgent Genetics 12 3 39 0 0 0 54
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 7 11 29 0 0 0 47
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 2 3 4 20 0 29
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 5 21 0 26
CSER _CC_NCGL, University of Washington 0 0 16 6 1 0 23
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 9 3 10 0 0 0 22
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 6 11 4 0 0 0 21
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 4 15 0 19
Institute of Human Genetics,University Medical Center Hamburg-Eppendorf 12 7 0 0 0 0 19
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 12 6 0 18
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 16 0 0 0 0 0 16
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 6 2 3 0 11
Institute of Human Genetics,Cologne University 3 4 3 0 0 0 10
Baylor Genetics 3 1 5 0 0 0 9
Genetics Department, University Hospital of Toulouse 5 3 1 0 0 0 9
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 7 0 0 0 7
GenomeConnect, ClinGen 0 0 0 0 0 6 6
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
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 5 0 5
Institute of Human Genetics,Klinikum rechts der Isar 3 1 0 0 0 0 4
SIB Swiss Institute of Bioinformatics 0 2 1 1 0 0 4
Elahi Laboratory, University of Tehran 2 0 1 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 3
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 2 0 0 0 3
Department of Medical Genetics,Gazi University 3 0 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 1 0 0 0 0 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 2 0 0 0 0 3
Molecular Diagnostics Laboratory, M Health: University of Minnesota 2 1 0 0 0 0 3
GeneReviews 2 0 0 0 0 0 2
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 1 1 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 1 0 0 0 2
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 2 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 2 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
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
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 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
Clinical Genetics Laboratory,Region Ostergotland 0 0 1 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
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 1
Biologia e Medicina Molecolare, Sapienza University of Rome 1 0 0 0 0 0 1
Medical Genetics Clinic,Mersin Women and Children Hospital 0 1 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
GeneID Lab - Advanced Molecular Diagnostics 0 1 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
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1

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