ClinVar Miner

Variants studied for ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome

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
34 19 65 7 21 2 146

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
LAMA1 32 18 65 7 21 2 144
LAMA1, LOC101927188 1 1 0 0 0 0 2
LAMA1, LOC112543434 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Baylor Genetics 1 0 29 0 0 0 30
Revvity Omics, Revvity 4 1 17 1 0 0 23
Genome-Nilou Lab 0 0 0 0 20 0 20
Dobyns Lab, Seattle Children's Research Institute 8 0 2 0 0 0 10
Fulgent Genetics, Fulgent Genetics 0 0 2 6 0 0 8
Sayer Lab, Translational and Clinical Research Institute, Newcastle Unversity 6 1 0 0 0 0 7
OMIM 5 0 0 0 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 2 0 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 4 0 0 0 5
MGZ Medical Genetics Center 2 1 1 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 2 1 0 0 0 4
Mendelics 0 0 0 0 3 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 3
Undiagnosed Diseases Network, NIH 1 1 1 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 3 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Genomic Medicine Lab, University of California San Francisco 0 1 1 0 0 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 1 0 0 0 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 2 0 0 0 0 0 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 1 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
Center for Medical Genetics Ghent, University of Ghent 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
DASA 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 1

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