ClinVar Miner

Variants studied for Loeys-Dietz syndrome

Included ClinVar conditions (12):
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
63 35 393 195 88 2 761

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 10 3 83 39 13 0 147
TGFBR2 19 16 60 37 13 2 142
TGFBR1 10 5 66 39 10 0 126
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
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, 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
COL5A1, LOC101448202 0 0 1 0 0 0 1
COL5A2 0 0 1 0 0 0 1
EPRS, 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: 31
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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 5 4 123 53 30 0 215
OMIM 46 0 0 0 0 0 46
Blueprint Genetics, 0 12 7 0 0 0 19
Fulgent Genetics 2 0 12 0 0 0 14
Integrated Genetics/Laboratory Corporation of America 3 5 1 0 4 0 13
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 8 0 0 0 0 0 8
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 4 3 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 0 2 0 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 2 0 2
CSER_CC_NCGL; University of Washington Medical Center 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 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
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
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

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