ClinVar Miner

Variants studied for Loeys-Dietz syndrome

Included ClinVar conditions (14):
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
75 60 650 211 106 3 1074

Gene and significance breakdown #

Total genes and gene combinations: 17
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TGFB3 16 10 114 45 7 0 192
SMAD3 15 12 112 37 16 1 186
TGFBR1 11 10 115 39 10 0 178
TGFBR2 21 20 84 34 13 2 164
TMPO 0 0 107 35 17 0 159
TGFB2 10 7 69 11 31 0 121
TGFB2, TGFB2-OT1 0 0 16 4 12 0 32
SMAD6 0 0 25 6 0 0 31
COL3A1 0 1 1 0 0 0 2
FBN1 1 0 1 0 0 0 2
FBN2 0 0 2 0 0 0 2
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
COL5A1, LOC101448202 0 0 1 0 0 0 1
COL5A2 0 0 1 0 0 0 1
EPRS1, ESRRG, GPATCH2, LYPLAL1, RRP15, SLC30A10, SPATA17, TGFB2 1 0 0 0 0 0 1
MYH11 0 0 1 0 0 0 1
MYLK 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 41
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 350 123 73 0 538
Invitae 11 10 244 86 24 0 375
OMIM 46 0 0 0 0 0 46
Blueprint Genetics 0 12 7 0 0 0 19
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 2 4 0 10 0 16
Integrated Genetics/Laboratory Corporation of America 4 6 1 0 4 0 15
Fulgent Genetics,Fulgent Genetics 2 0 12 0 0 0 14
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 7 5 0 0 0 0 12
Baylor Genetics 1 4 5 0 0 0 10
Genetics Department, University Hospital of Toulouse 5 3 1 0 0 0 9
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 2 1 5 0 0 0 8
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 2 3 3 0 0 0 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 6 0 0 0 8
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 7 0 0 0 0 0 7
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 4 2 0 0 6
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 6 0 0 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 3 1 0 0 6
Center for Human Genetics, Inc,Center for Human Genetics, Inc 1 1 1 0 1 0 4
Institute of Human Genetics,Cologne University 0 2 2 0 0 0 4
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 2 1 0 0 0 4
Mendelics 0 1 0 1 1 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 2 0 2
Institute of Human Genetics, Klinikum rechts der Isar 1 1 0 0 0 0 2
CSER _CC_NCGL, University of Washington 0 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 0 2
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 0 2 0 2
Mayo Clinic 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
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 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
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
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 1 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
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 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.