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
71 46 411 163 70 3 742

Gene and significance breakdown #

Total genes and gene combinations: 17
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SMAD3 15 8 87 39 16 1 162
TGFBR2 21 16 60 37 13 2 143
TGFBR1 11 7 66 39 10 0 129
TGFB2 10 7 49 17 18 0 94
TGFB3 12 7 58 9 0 0 85
TMPO 0 0 47 4 2 0 53
SMAD6 0 0 31 8 4 0 43
TGFB2, TGFB2-OT1 0 0 5 10 7 0 22
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: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 226 141 52 0 419
Invitae 6 6 136 21 6 0 175
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 3 0 9 0 14
Fulgent Genetics,Fulgent Genetics 2 0 12 0 0 0 14
Integrated Genetics/Laboratory Corporation of America 3 5 1 0 4 0 13
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 6 4 0 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
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 7 0 0 0 0 0 7
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 2 3 2 0 0 0 7
Division of Genomic Diagnostics,The 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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 4 0 0 0 6
Center for Human Genetics, Inc 1 1 1 0 1 0 4
Baylor Genetics 0 1 2 0 0 0 3
Institute of Human Genetics,Cologne University 0 1 2 0 0 0 3
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
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 0 2 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 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
Petrovsky Russian Research Center of Surgery, The Federal Agency for Scientific Organizations 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
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: 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

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