ClinVar Miner

Variants studied for Lafora disease

Included ClinVar conditions (3):
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
38 17 197 90 18 9 352

Gene and significance breakdown #

Total genes and gene combinations: 4
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NHLRC1 27 10 184 88 16 5 316
EPM2A, EPM2A-DT, LOC129997381 3 4 7 2 1 2 18
EPM2A 7 3 6 0 1 2 17
NHLRC1, TPMT 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 20 6 149 85 6 0 266
Illumina Laboratory Services, Illumina 1 0 29 3 14 0 47
OMIM 14 0 0 0 0 0 14
Revvity Omics, Revvity 3 1 8 0 0 0 12
GeneReviews 0 0 0 0 0 9 9
Fulgent Genetics, Fulgent Genetics 1 1 3 1 0 0 6
Baylor Genetics 1 0 4 0 0 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 3 1 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 1 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 2 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 1 2 0 0 0 3
Athena Diagnostics Inc 0 0 0 0 2 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 0 1 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 1 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Mendelics 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 1 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
HSP Biomedical Diagnostics Department, Hospital San Pedro 0 0 1 0 0 0 1
Genesis Genoma Lab, Genesis Genoma Lab 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
DASA 1 0 0 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.