ClinVar Miner

Variants studied for Marfan and Marfan-related disorder

Included ClinVar conditions (23):
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
1122 889 2375 851 341 10 5246

Gene and significance breakdown #

Total genes and gene combinations: 30
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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
FBN2 20 22 618 221 121 2 956
SKI 14 7 160 86 22 0 277
TGFB3 16 10 114 45 7 0 192
SMAD3 15 12 112 37 16 1 186
TGFBR1 11 10 115 40 10 0 179
TGFBR2 21 21 85 37 15 2 165
TMPO 0 0 107 35 17 0 159
TGFB2 10 8 69 11 31 0 122
FBN1, LOC113939944 21 12 11 5 1 0 46
TGFB2, TGFB2-OT1 0 0 16 4 12 0 32
SMAD6 0 0 25 6 0 0 31
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, FBN1-DT, LOC113939944 1 0 0 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
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: 81
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 758 229 1528 615 172 0 3299
Illumina Clinical Services Laboratory,Illumina 1 1 598 232 225 0 1046
Center for Medical Genetics Ghent,University of Ghent 172 352 175 14 0 0 712
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 60 90 0 0 0 0 150
Center for Human Genetics, Inc,Center for Human Genetics, Inc 36 37 26 18 1 0 118
Integrated Genetics/Laboratory Corporation of America 10 47 21 7 19 0 104
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 32 0 0 0 50
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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 2 4 10 23 0 39
Baylor Genetics 6 6 19 0 0 0 31
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 8 15 5 0 0 0 28
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 10 6 10 0 0 0 26
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
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 1 0 0 0 0 17
Institute of Human Genetics,Cologne University 3 7 3 0 0 0 13
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 3 3 7 0 0 0 13
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 6 2 3 0 11
Institute of Human Genetics, University of Leipzig Medical Center 2 4 4 0 0 0 10
GenomeConnect, ClinGen 0 0 0 0 0 10 10
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 3 4 1 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
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
Johns Hopkins Genomics, Johns Hopkins University 1 1 2 1 0 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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 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 Fairview: University of Minnesota 2 1 0 0 0 0 3
GeneReviews 2 0 0 0 0 0 2
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
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
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 0 0 0 0 0 2
Undiagnosed Diseases Network,NIH 1 1 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 2
Center of Excellence for Medical Genomics, Chulalongkorn University 1 0 1 0 0 0 2
MNM Diagnostics 1 0 0 1 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
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
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
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
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
Breda Genetics srl 0 0 1 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
Medical Genetics Laboratory, West China Hospital, Sichuan 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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