ClinVar Miner

Variants studied for Tuberous sclerosis syndrome

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
45 15 1148 656 178 2140 3869

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TSC2 28 8 791 520 132 1587 2805
TSC1 17 7 353 135 45 548 1053
LOC130058210, TSC2 0 0 4 1 1 0 6
PKD1, TSC2 0 0 0 0 0 5 5

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
All of Us Research Program, National Institutes of Health 4 2 980 581 146 0 1713
Tuberous sclerosis database (TSC2) 0 0 0 0 0 1591 1591
Tuberous sclerosis database (TSC1) 0 0 0 0 0 548 548
Illumina Laboratory Services, Illumina 0 0 169 83 56 0 308
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 24 5 0 0 0 0 29
CSER _CC_NCGL, University of Washington 0 0 13 3 1 0 17
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 8 4 0 0 0 0 12
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 10 2 0 0 12
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 3 2 0 0 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 1 0 0 0 0 5
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
GeniaGeo, Laboratorio Genia 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 1
Tuberous Sclerosis Complex New Zealand 1 0 0 0 0 0 1

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