ClinVar Miner

Variants studied for Tuberous sclerosis 1

Coded as:
Minimum submission review status: Collection method:
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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
188 42 949 294 261 1 1676

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TSC1 186 42 944 294 261 1 1669
GFI1B, MIR548AW, TSC1 0 0 2 0 0 0 2
TSC2 1 0 1 0 0 0 2
ABO, ADAMTS13, ADAMTSL2, BRD3, CACFD1, CEL, DBH, FAM163B, GBGT1, GFI1B, GTF3C5, MED22, MYMK, OBP2B, RALGDS, REXO4, RNU6ATAC, RPL7A, SARDH, SLC2A6, STKLD1, SURF1, SURF2, SURF4, SURF6, TSC1, VAV2, WDR5 0 0 1 0 0 0 1
ABO, ADAMTS13, ADAMTSL2, CACFD1, CEL, DBH, FAM163B, GBGT1, GFI1B, GTF3C5, MED22, MYMK, OBP2B, RALGDS, REXO4, RPL7A, SARDH, SLC2A6, STKLD1, SURF1, SURF2, SURF4, SURF6, TSC1, VAV2 0 0 1 0 0 0 1
AK8, SPACA9, TSC1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 141 25 834 258 208 0 1466
Illumina Clinical Services Laboratory,Illumina 0 0 106 31 64 0 201
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute,Kanazawa Medical University 34 0 4 6 2 0 46
Athena Diagnostics Inc 20 0 0 0 6 0 26
Center for Human Genetics, Inc,Center for Human Genetics, Inc 7 7 1 1 1 0 17
Mendelics 8 0 3 2 2 0 15
OMIM 6 0 1 0 0 0 7
Baylor Genetics 2 1 3 0 0 0 6
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 4 0 5
Institute of Human Genetics, University of Leipzig Medical Center 2 3 0 0 0 0 5
Molecular Biology Laboratory, Fundació Puigvert 2 1 0 0 0 0 3
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 2 0 0 0 2
Department of Medical Genetics,University of Pecs 0 1 1 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Blueprint Genetics 0 1 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 0 1 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 0 0 1 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 1
HSP Biomedical Diagnostics Department,Hospital San Pedro 0 1 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 1 0 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 0 1 0 0 0 1
Division of Medical Genetics, University of Washington 0 1 0 0 0 0 1

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