ClinVar Miner

Variants studied for Tuberous sclerosis 2

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
191 32 989 525 369 20 2112

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
TSC2 185 32 987 525 369 2 2086
SERPINC1 0 0 0 0 0 18 18
LOC105371049, MIR1225, MIR6511B1, PKD1, TSC2 3 0 0 0 0 0 3
LOC105371049, MIR1225, PKD1, TSC2 2 0 0 0 0 0 2
PKD1, TSC2 0 0 2 0 0 0 2
MIR1225, PKD1, TSC2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 139 17 975 523 364 0 2018
Athena Diagnostics Inc 45 6 0 0 26 0 77
Center for Human Genetics, Inc 11 7 5 0 0 0 23
Hubei Clinical and Research Center of Thrombosis and Hemostasis Institute of Hematology, Union Hospital 0 0 0 0 0 18 18
OMIM 16 0 0 0 0 0 16
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 4 1 5 0 10
GeneReviews 5 0 0 0 0 0 5
Center of Genomic medicine, Geneva,University Hospital of Geneva 4 0 0 0 0 0 4
Baylor Miraca Genetics Laboratories, 2 1 0 0 0 0 3
Institute of Human Genetics,Cologne University 2 0 1 0 0 0 3
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 3 0 0 0 3
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 0 0 0 0 0 2 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 1 0 0 0 2
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 1 0 0 0 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 1 0 0 0 0 0 1
CSER_CC_NCGL; University of Washington Medical Center 0 0 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
Warsaw Genomics 1 0 0 0 0 0 1

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