ClinVar Miner

Variants studied for cerebral cortex disease

Included ClinVar conditions (17):
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 total
36 14 102 22 20 187

Gene and significance breakdown #

Total genes and gene combinations: 15
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GAD1 1 1 59 17 14 86
PSEN1 20 7 28 5 5 65
MAPT 7 0 4 0 0 11
KANK1 1 0 8 0 1 10
ADD3 1 1 2 0 0 3
​intergenic 0 1 1 0 0 2
PMM2 2 0 0 0 0 2
BRCA2 0 1 0 0 0 1
CC2D1A 0 1 0 0 0 1
PALS1 1 0 0 0 0 1
RNASEH2B 1 0 0 0 0 1
SAMHD1 1 0 0 0 0 1
SMARCA4 1 0 0 0 0 1
TUBB4A 0 1 0 0 0 1
ZDHHC15 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 19 5 43 18 6 91
Illumina Clinical Services Laboratory,Illumina 0 0 46 4 13 63
OMIM 8 0 0 0 0 8
Baylor Genetics 0 1 7 0 0 8
Fulgent Genetics,Fulgent Genetics 3 2 1 0 0 6
NIHR Bioresource Rare Diseases, University of Cambridge 2 2 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 1 0 3
Centre of Medical Genetics, University of Antwerp 2 0 0 0 0 2
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 0 1 1 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 1 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 1 0 0 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 1 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 1
Kruer lab,Phoenix Children's Hospital 0 1 0 0 0 1
Gene Discovery Core-Manton Center,Boston Children's Hospital 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 1
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 1
TIDEX, University of British Columbia 0 0 1 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.