ClinVar Miner

Variants studied for Tuberous sclerosis 1

Coded as:
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
183 41 794 291 260 1 1511

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 181 41 789 291 260 1 1504
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: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 138 27 682 255 207 0 1309
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 21 0 0 0 6 0 27
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
Division of Genomic Diagnostics,The 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
Department of Medical Genetics,University of Pecs 0 1 1 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
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
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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 1 0 0 0 0 0 1
Division of Medical Genetics, University of Washington 0 1 0 0 0 0 1

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