ClinVar Miner

Variants studied for Tuberous sclerosis syndrome

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
131 39 1719 1229 310 2140 5010

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 81 25 1210 926 207 1570 3600
TSC1 49 13 500 296 90 548 1373
PKD1, TSC2 1 0 1 5 12 22 25
LOC130058210, TSC2 0 1 5 1 1 0 8
ROBO3 0 0 3 0 0 0 3
NF1 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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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 7 3 1218 710 152 0 2090
Color Diagnostics, LLC DBA Color Health 5 3 705 762 274 0 1749
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 95 68 53 0 216
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 38 5 8 2 0 0 53
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 25 9 0 0 0 0 34
Department of Pathology and Laboratory Medicine, Sinai Health System 3 6 4 8 10 0 31
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 24 5 0 0 0 0 29
NHS Central & South Genomic Laboratory Hub 22 5 0 0 0 0 27
CSER _CC_NCGL, University of Washington 0 0 13 3 1 0 17
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 10 2 0 0 12
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 8 3 0 0 0 0 11
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 3 2 0 0 0 0 5
Clinical Genetics Laboratory, Skane University Hospital Lund 4 0 0 0 0 0 4
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Dasa 1 0 0 0 0 0 1
GeniaGeo, Laboratorio Genia 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 0 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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