ClinVar Miner

Variants studied for Tuberous sclerosis syndrome

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
59 18 1384 785 183 2140 4233

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 35 9 951 604 127 1571 3030
TSC1 23 9 429 174 47 548 1173
PKD1, TSC2 1 0 0 6 8 21 24
LOC130058210, TSC2 0 0 4 1 1 0 6

Submitter and significance breakdown #

Total submitters: 18
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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
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 13 4 0 0 0 0 17
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 5 3 0 0 0 0 8
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 3 2 0 0 0 0 5
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 5 0 0 0 0 0 5
Clinical Genetics Laboratory, Skane University Hospital Lund 2 0 0 0 0 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 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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