ClinVar Miner

Variants studied for connective tissue disease with eye involvement

Included ClinVar conditions (15):
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
920 664 975 365 156 3 2894

Gene and significance breakdown #

Total genes and gene combinations: 25
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FBN1 501 646 528 203 65 1 1783
ABCC6 352 4 3 1 19 2 375
ZNF469 4 0 187 53 27 0 270
PLOD1 14 3 116 47 13 0 176
TGFBR2 19 1 55 37 12 0 123
TMPO 0 0 34 15 14 0 63
PRDM5 6 0 32 3 3 0 44
FBN1, LOC113939944 13 7 5 4 1 0 27
PORCN 7 1 1 0 0 0 9
COL5A2 0 0 4 0 0 0 4
FBN2 0 1 1 0 0 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
ABCC1, ABCC6, FOPNL, LOC112340382, LOC113939949, MYH11, NDE1 1 0 0 0 0 0 1
ABCC1, ABCC6, FOPNL, LOC112340382, MYH11 1 0 0 0 0 0 1
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
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
TGFBR1 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 56
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 275 111 372 166 73 0 997
Center for Medical Genetics Ghent,University of Ghent 172 352 175 14 0 0 712
Illumina Clinical Services Laboratory,Illumina 0 0 355 189 66 0 610
PXE International 347 4 0 0 19 0 370
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 52 82 0 0 0 0 134
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 44 22 8 15 0 95
Blueprint Genetics, 9 35 13 1 0 0 58
Fulgent Genetics 16 3 36 0 0 0 55
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 7 7 14 0 0 0 28
CSER_CC_NCGL; University of Washington Medical Center 0 0 14 6 1 0 21
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 2 18 0 20
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
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 7 2 5 0 0 0 14
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 5 6 1 0 0 0 12
Baylor Genetics 7 0 3 1 0 0 11
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 1 5 0 0 0 7
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 2 0 3 0 5
Institute of Human Genetics,Cologne University 1 2 2 0 0 0 5
Zhou Lab, Center of Laboratory Medicine,Fuwai Hospital 5 0 0 0 0 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
Elahi Laboratory, University of Tehran 2 0 1 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
Molecular Diagnostics Laboratory,M Health: 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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 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
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 1 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
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
HudsonAlpha Institute for Biotechnology 1 0 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,Institute of Human Genetics 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 1 0 0 0 0 0 1
Laboratory of Molecular Genetics,CHU RENNES 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
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
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
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.