ClinVar Miner

Variants studied for connective tissue disease with eye involvement

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
1169 939 1754 542 213 9 4330

Gene and significance breakdown #

Total genes and gene combinations: 32
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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
ABCC6 88 119 148 12 32 2 382
PLOD1 25 4 231 69 25 0 333
ZNF469 6 3 199 55 28 2 291
TMPO 0 0 107 35 17 0 159
TGFBR2 20 4 81 36 14 0 146
PRDM5 7 3 35 5 4 0 54
FBN1, LOC113939944 21 12 11 5 1 0 46
PORCN 10 5 2 0 0 0 17
COL5A2 0 0 4 0 0 0 4
FBN2 0 1 1 0 0 0 2
LOC112577486, PLOD1 0 0 1 0 1 0 2
LTBP2 1 0 1 0 0 0 2
MFN2, PLOD1 0 0 0 0 2 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
ABCC1, ABCC6, CEP20, LOC112340382, LOC113939949, MYH11, NDE1 1 0 0 0 0 0 1
ABCC1, ABCC6, CEP20, LOC112340382, MYH11 1 0 0 0 0 0 1
ABCC2 0 1 0 0 0 0 1
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
LOC102723692, XYLT1 0 0 1 0 0 0 1
MYLK 0 0 1 0 0 0 1
TGFB2 0 1 0 0 0 0 1
XYLT2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 80
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 751 206 920 361 85 0 2320
Illumina Clinical Services Laboratory,Illumina 0 1 461 160 112 0 730
Center for Medical Genetics Ghent,University of Ghent 176 358 175 14 0 0 722
PXE International 73 114 145 7 31 0 370
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 55 85 0 0 0 0 140
Center for Human Genetics, Inc,Center for Human Genetics, Inc 33 34 23 17 0 0 107
OMIM 98 0 1 0 0 0 99
Integrated Genetics/Laboratory Corporation of America 6 41 20 7 15 0 89
Mendelics 18 15 9 6 11 0 59
Blueprint Genetics 9 35 13 1 0 0 58
Fulgent Genetics,Fulgent Genetics 16 3 36 0 0 0 55
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
Baylor Genetics 10 3 26 1 0 0 40
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 7 9 19 2 0 0 37
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 7 7 19 0 34
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
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 2 18 0 20
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
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 18 0 18
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 2 0 0 0 10
Institute of Human Genetics, University of Leipzig Medical Center 3 3 3 0 0 0 9
GenomeConnect, ClinGen 0 0 0 0 0 9 9
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 6 0 0 0 7
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 5 1 0 0 7
Reproductive Health Research and Development,BGI Genomics 0 1 1 4 1 0 7
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
Sharon lab,Hadassah-Hebrew University Medical Center 2 3 0 0 0 0 5
Zhou Lab, Center of Laboratory Medicine,Fuwai Hospital 5 0 0 0 0 0 5
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 3 1 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
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 1 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 1 0 1 0 0 0 2
Institute for Human Genetics,University Clinic Freiburg 1 0 1 0 0 0 2
Centogene AG - the Rare Disease Company 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
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 2 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 2 0 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
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 2 0 0 0 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 1 0 2
MNM Diagnostics 1 0 0 1 0 0 2
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 1 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
Medical Genetics UMG,Mater Domini University Hospital/ Magna Graecia University of Catanzaro 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 1 0 0 0 0 1
Laboratory of Molecular Genetics,CHU RENNES 0 1 0 0 0 0 1
Laboratory of Research in Genomics, Genetics and Bioinformatics,Hospital Infantil de Mexico Federico Gomez 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 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
Biologia e Medicina Molecolare, Sapienza University of Rome 1 0 0 0 0 0 1
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 0 0 0 1 0 0 1
Broad Institute Rare Disease Group, Broad Institute 1 0 0 0 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
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 1 0 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 1 0 0 0 0 0 1
Nilou-Genome Lab 0 0 0 0 1 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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