ClinVar Miner

Variants studied for Marfan and Marfan-related disorder

Included ClinVar conditions (19):
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
610 706 1300 599 256 3 3231

Gene and significance breakdown #

Total genes and gene combinations: 26
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FBN1 501 646 528 203 65 1 1783
FBN2 14 12 297 156 85 0 504
SMAD3 10 3 83 39 13 0 147
TGFBR2 19 16 60 37 13 2 142
SKI 13 5 67 39 17 0 137
TGFBR1 10 5 66 40 10 0 127
TGFB3 11 5 50 22 6 0 93
TGFB2 10 5 48 17 15 0 91
SMAD6 0 0 39 16 10 0 65
TMPO 0 0 34 15 14 0 63
FBN1, LOC113939944 13 7 5 4 1 0 27
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
BPNT1, C1orf115, DUSP10, EPRS, ESRRG, GPATCH2, HLX, IARS2, KCTD3, LYPLAL1, MARC1, MARC2, MARK1, MIR194-1, MIR215, RAB3GAP2, RRP15, SLC30A10, SPATA17, TGFB2, USH2A 1 0 0 0 0 0 1
CEP152, FBN1, LOC113939944 1 0 0 0 0 0 1
EPRS, 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: 58
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 283 119 679 281 164 0 1526
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 54 85 0 0 0 0 139
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
Fulgent Genetics 12 3 39 0 0 0 54
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 7 9 24 0 0 0 40
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 5 21 0 26
CSER_CC_NCGL; University of Washington Medical Center 0 0 16 6 1 0 23
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 8 3 10 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 17 0 0 0 0 0 17
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 5 9 3 0 0 0 17
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 6 2 3 0 11
Baylor Genetics 4 1 4 0 0 0 9
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 7 0 0 0 7
Institute of Human Genetics,Cologne University 1 2 3 0 0 0 6
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
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 2 0 0 0 0 4
Petrovsky Russian Research Center of Surgery, The Federal Agency for Scientific Organizations 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
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Molecular Diagnostics Laboratory,M Health: University of Minnesota 2 1 0 0 0 0 3
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 1 1 0 0 0 0 2
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 2 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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 0 1 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
HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 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
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 1 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
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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 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

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