ClinVar Miner

Variants studied for cerebral palsy

Included ClinVar conditions (12):
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
9 7 70 17 15 111

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GAD1 1 1 59 17 14 86
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: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 46 4 13 63
Invitae 0 0 15 13 1 29
Baylor Genetics 0 1 7 0 0 8
NIHR Bioresource Rare Diseases, University of Cambridge 2 2 0 0 0 4
OMIM 3 0 0 0 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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 1 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
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

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