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
26 9 191 85 56 2140 2363

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 18 4 129 79 52 1587 1735
TSC1 8 5 61 5 3 548 620
PKD1, TSC2 0 0 0 0 0 5 5
LOC130058210, TSC2 0 0 1 1 1 0 3

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
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
CSER _CC_NCGL, University of Washington 0 0 13 3 1 0 17
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 12 1 0 0 0 0 13
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 10 2 0 0 12
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 4 0 0 0 0 11
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 3 1 0 0 0 0 4
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
Tuberous Sclerosis Complex New Zealand 1 0 0 0 0 0 1

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