ClinVar Miner

Variants studied for cerebral cortical dysplasia

Included ClinVar conditions (10):
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
55 27 720 233 89 1 1118

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TSC2 32 16 387 156 3 0 593
TSC1 13 8 311 70 86 0 482
MTOR 9 1 17 7 0 1 35
LOC130058210, TSC2 0 0 2 0 0 0 2
​intergenic 0 0 1 0 0 0 1
FAM20C 0 1 0 0 0 0 1
NTHL1, TSC2 0 0 1 0 0 0 1
PKD1, TSC2 0 0 1 0 0 0 1
RHEB 1 0 0 0 0 0 1
TBR1 0 1 0 0 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
Baylor Genetics 7 13 383 2 0 0 405
Fulgent Genetics, Fulgent Genetics 22 7 166 192 6 0 393
Illumina Laboratory Services, Illumina 0 0 150 32 84 0 266
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 10 4 18 4 0 0 36
Juno Genomics, Hangzhou Juno Genomics, Inc 13 0 1 0 0 0 14
OMIM 9 0 1 0 0 0 10
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 6 0 0 0 7
3billion 0 0 0 7 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 4 0 0 0 5
Clinical Genomics Laboratory, Washington University in St. Louis 2 0 1 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 0 2
Molecular Genetics Lab, CHRU Brest 1 0 1 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
Mendelics 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1

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