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 not provided total
13 52 134 162 67 1 390

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 6 11 33 96 55 0 192
Leigh syndrome 0 0 84 13 5 0 102
Leigh syndrome, French Canadian type 8 41 32 6 3 1 89
not specified 0 0 7 58 22 0 85
See cases 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 4 8 20 68 53 0 153
Invitae 2 2 2 83 20 0 109
Illumina Clinical Services Laboratory,Illumina 0 0 83 13 5 0 101
Counsyl 1 35 25 6 0 0 67
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 3 1 7 0 11
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 1 5 0 8
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 8 0 0 0 8
OMIM 7 0 0 0 0 0 7
Baylor Genetics 1 4 0 0 0 0 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 3 0 2 0 5
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 4 1 0 0 5
Fulgent Genetics,Fulgent Genetics 0 0 4 0 0 0 4
Genetic Services Laboratory, University of Chicago 0 0 0 3 0 0 3
Division of Genomic Diagnostics,The 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
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 2 0 0 0 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 1 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 0 1
Mendelics 0 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 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
GenomeConnect, ClinGen 0 0 0 0 0 1 1

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