ClinVar Miner

Variants studied for Loeys-Dietz syndrome 4

Included ClinVar conditions (1):
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 total
22 14 184 57 47 318

Gene and significance breakdown #

Total genes and gene combinations: 5
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TGFB3 11 10 112 45 7 185
TGFB2 10 4 58 8 29 103
TGFB2, TGFB2-OT1 0 0 14 4 11 29
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 1
EPRS1, ESRRG, GPATCH2, LYPLAL1, RRP15, SLC30A10, SPATA17, TGFB2 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 11 10 112 45 7 185
Illumina Clinical Services Laboratory,Illumina 0 0 64 11 34 109
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 2 0 0 6 8
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 7 0 0 0 0 7
OMIM 5 0 0 0 0 5
Baylor Genetics 0 1 2 0 0 3
Center for Human Genetics, Inc,Center for Human Genetics, Inc 1 1 0 0 1 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 3 0 0 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 2 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 2
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 0 2 2
Institute of Human Genetics,Cologne University 0 0 1 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 1 0 1
Genetics Department, University Hospital of Toulouse 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 1 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 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.