ClinVar Miner

Variants in gene LRPPRC

See also:
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
121 239 499 1252 145 3 2105

Condition and significance breakdown #

Total conditions: 8
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 116 59 244 1181 138 1 1709
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 11 192 210 43 45 2 481
Inborn genetic diseases 1 0 114 34 0 0 149
not specified 0 0 21 52 23 0 94
LRPPRC-related disorder 1 1 6 28 3 0 39
Leigh syndrome 0 0 11 0 1 0 12
Mitochondrial complex IV deficiency, nuclear type 5, French-Canadian 0 0 1 0 0 0 1
See cases 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 47
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 113 48 158 1120 71 0 1510
GeneDx 4 10 95 110 91 0 310
Illumina Laboratory Services, Illumina 0 0 137 5 27 0 169
Ambry Genetics 1 0 114 34 0 0 149
Baylor Genetics 6 85 11 0 0 0 102
Natera, Inc. 1 0 41 31 10 0 83
Breakthrough Genomics, Breakthrough Genomics 0 0 4 17 49 0 70
Counsyl 1 33 25 5 0 0 64
Myriad Genetics, Inc. 0 54 0 0 0 0 54
Fulgent Genetics, Fulgent Genetics 1 30 12 5 1 0 49
PreventionGenetics, part of Exact Sciences 1 1 6 28 3 0 39
CeGaT Center for Human Genetics Tuebingen 0 1 11 19 2 0 33
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 8 18 3 1 0 31
Genome-Nilou Lab 0 0 2 1 23 0 26
Revvity Omics, Revvity 1 2 14 0 0 0 17
Mayo Clinic Laboratories, Mayo Clinic 0 0 5 1 7 0 13
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 9 0 0 0 9
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 1 5 0 8
Eurofins Ntd Llc (ga) 0 0 8 0 0 0 8
OMIM 7 0 0 0 0 0 7
Genetic Services Laboratory, University of Chicago 1 1 0 3 0 0 5
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 3 0 2 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 3 0 0 5
New York Genome Center 0 0 4 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 1 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 2 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 2 0 0 0 2
Centogene AG - the Rare Disease Company 0 0 2 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 2 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 1 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 1 0 0 0 1
Mendelics 0 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
ISCA Site 6 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 0 0 1 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 1 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 0 1
3billion 0 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.