ClinVar Miner

Variants studied for complex cortical dysplasia with other brain malformations 2

Included ClinVar conditions (1):
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 2 15 3 0 1 22

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign not provided total
KIF5C 3 2 15 3 1 22

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign not provided total
Revvity Omics, Revvity 0 0 4 0 0 4
Baylor Genetics 1 0 2 0 0 3
OMIM 2 0 0 0 0 2
Institute of Human Genetics, Cologne University 0 0 1 1 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 1
Mendelics 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 0 1 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 1 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 1
Suma Genomics 0 0 0 1 0 1

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