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
3 3 162 169 26 2140 2373

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TSC2 3 1 73 86 5 1587 1660
TSC1 0 2 89 83 21 548 708
PKD1, TSC2 0 0 0 0 0 5 5

Submitter and significance breakdown #

Total submitters: 9
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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 Clinical Services Laboratory,Illumina 0 0 150 167 25 0 342
CSER_CC_NCGL; University of Washington Medical Center 0 0 13 3 1 0 17
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 1 0 0 0 0 2
Integrated Genetics/Laboratory Corporation of America 1 1 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
GeniaGeo, Laboratorio Genia 0 1 0 0 0 0 1

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