ClinVar Miner

Variants studied for Loeys-Dietz syndrome 4

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Gene type:
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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
56 20 230 146 46 1 475

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TGFB2 54 19 216 139 35 1 440
TGFB2, TGFB2-OT1 0 0 14 4 11 0 29
TGFB3 1 0 0 3 0 0 4
AIDA, BPNT1, BROX, C1orf115, DISP1, DUSP10, EPRS1, ESRRG, FAM177B, GPATCH2, HHIPL2, HLX, IARS2, KCNK2, KCTD3, LYPLAL1, MARK1, MIA3, MIR194-1, MIR215, MTARC1, MTARC2, RAB3GAP2, RRP15, SLC30A10, SPATA17, TAF1A, TGFB2, USH2A 1 0 0 0 0 0 1
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
BPNT1, EPRS1, ESRRG, GPATCH2, LYPLAL1, RRP15, SLC30A10, SPATA17, TGFB2, USH2A 1 0 0 0 0 0 1
EPRS1, ESRRG, GPATCH2, LYPLAL1, RRP15, SLC30A10, SPATA17, TGFB2 1 0 0 0 0 0 1
ESRRG, GPATCH2, LYPLAL1, RRP15, SPATA17, TGFB2 1 0 0 0 0 0 1
GPATCH2, RRP15, SPATA17, TGFB2 1 0 0 0 0 0 1
LOC130056139, TGFB3 0 1 0 0 0 0 1
RRP15, TGFB2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 45 14 152 132 10 0 353
Illumina Laboratory Services, Illumina 0 0 64 11 34 0 109
Fulgent Genetics, Fulgent Genetics 0 0 30 3 2 0 35
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 2 3 3 8 0 16
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 7 0 0 0 0 0 7
OMIM 5 0 0 0 0 0 5
Baylor Genetics 0 1 3 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 1 0 0 0 4
Center for Human Genetics, Inc, Center for Human Genetics, Inc 1 1 0 0 1 0 3
MGZ Medical Genetics Center 1 2 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 3 0 0 0 3
3billion 1 2 0 0 0 0 3
Revvity Omics, Revvity 0 0 2 0 0 0 2
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
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 0 2 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 0 2 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Genetics Department, University Hospital of Toulouse 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 1 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
School of Medicine, Southern Illinois University 1 0 0 0 0 0 1

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