ClinVar Miner

Variants in gene LRPPRC

See also:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
123 274 677 1280 145 62 2360

Condition and significance breakdown #

Total conditions: 37
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 118 58 267 1202 138 1 1754
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 11 230 330 47 45 2 640
Inborn genetic diseases 1 0 183 40 0 0 224
not specified 0 0 25 53 23 0 99
LRPPRC-related disorder 1 1 6 28 3 0 39
Ovarian serous cystadenocarcinoma 0 0 0 0 0 9 9
Acute myeloid leukemia 0 0 0 0 0 6 6
Familial cancer of breast 0 0 0 0 0 6 6
Malignant tumor of esophagus 0 0 0 0 0 6 6
Melanoma 0 0 0 0 0 6 6
Thymoma 0 0 0 0 0 6 6
Cervical cancer 0 0 0 0 0 5 5
Gastric cancer 0 0 0 0 0 5 5
Sarcoma 0 0 0 0 0 5 5
Uterine corpus endometrial carcinoma 0 0 0 0 0 5 5
Familial pancreatic carcinoma 0 0 0 0 0 4 4
Leigh syndrome 0 0 4 0 0 0 4
Uterine carcinosarcoma 0 0 0 0 0 4 4
Colon adenocarcinoma 0 0 0 0 0 3 3
Nonpapillary renal cell carcinoma 0 0 0 0 0 3 3
Ovarian cancer 0 0 0 0 0 3 3
Papillary renal cell carcinoma type 1 0 0 0 0 0 3 3
Squamous cell carcinoma of the head and neck 0 0 0 0 0 3 3
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 3 3
Cholangiocarcinoma 0 0 0 0 0 2 2
Colorectal cancer 0 0 0 0 0 2 2
Hepatocellular carcinoma 0 0 0 0 0 2 2
Intellectual disability 0 0 2 0 0 0 2
Lung cancer 0 0 0 0 0 2 2
Lymphoma 0 0 0 0 0 2 2
Uveal melanoma 0 0 0 0 0 2 2
Adrenocortical carcinoma, hereditary 0 0 0 0 0 1 1
Chronic lymphocytic leukemia/small lymphocytic lymphoma 0 0 0 0 0 1 1
Glioma susceptibility 1 0 0 0 0 0 1 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 1 1
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: 52
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 115 48 168 1140 71 0 1542
GeneDx 4 9 111 110 91 0 325
Natera, Inc. 2 53 159 35 10 0 259
Ambry Genetics 1 0 183 40 0 0 224
Illumina Laboratory Services, Illumina 0 0 130 5 26 0 161
Baylor Genetics 6 85 11 0 0 0 102
Breakthrough Genomics, Breakthrough Genomics 0 0 4 17 49 0 70
Counsyl 1 33 25 5 0 0 64
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 60 60
Myriad Genetics, Inc. 0 58 0 0 0 0 58
Fulgent Genetics, Fulgent Genetics 1 30 12 5 1 0 49
PreventionGenetics, part of Exact Sciences 1 1 6 28 3 0 39
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 9 22 4 1 0 37
CeGaT Center for Human Genetics Tuebingen 0 1 11 22 2 0 36
Genome-Nilou Lab 0 0 2 1 23 0 26
Mayo Clinic Laboratories, Mayo Clinic 0 0 9 6 11 0 26
Revvity Omics, Revvity 1 3 16 0 0 0 20
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
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
Genetic Services Laboratory, University of Chicago 1 1 0 3 0 0 5
New York Genome Center 0 0 4 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 2 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 1 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 1 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 0 0 0 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 2 0 0 0 2
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 2 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 1 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
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 2 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 2 0 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 1 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Variantyx, Inc. 1 1 0 0 0 0 2
3billion 0 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 0 0 1 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 0 1
ISCA Site 6 0 0 1 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Mendelics 0 0 1 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 1 1
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.