ClinVar Miner

Variants in gene LRPPRC

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
11 47 131 77 27 268

Condition and significance breakdown #

Total conditions: 5
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Leigh syndrome 0 0 83 13 5 101
not specified 0 0 6 58 22 84
Leigh syndrome, French Canadian type 7 38 32 6 0 82
not provided 4 9 29 2 9 53
See cases 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 19
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 4 8 20 55 22 109
Illumina Clinical Services Laboratory,Illumina 0 0 83 13 5 101
Counsyl 1 35 25 6 0 67
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 3 1 7 11
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 8 0 0 8
OMIM 7 0 0 0 0 7
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 2 1 3 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 3 0 2 5
Fulgent Genetics 0 0 4 0 0 4
Genetic Services Laboratory, University of Chicago 0 0 0 3 0 3
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 2 0 0 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 2 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 2 0 0 2
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 1
ISCA site 6 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 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.