ClinVar Miner

Variants in gene LRPPRC

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Gene type:
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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
29 62 212 277 78 1 601

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 23 21 39 223 55 0 348
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 8 42 180 24 28 1 269
not specified 0 0 7 58 22 0 85
Leigh syndrome 0 0 10 0 1 0 11
Inborn genetic diseases 0 0 2 0 0 0 2
Seizures; Intellectual disability 0 0 2 0 0 0 2
See cases 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 19 11 3 210 20 0 263
Illumina Clinical Services Laboratory,Illumina 0 0 138 5 27 0 170
GeneDx 4 8 20 68 53 0 153
Counsyl 1 35 25 6 0 0 67
Natera, Inc. 1 0 27 15 8 0 51
Baylor Genetics 1 5 9 0 0 0 15
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 1 7 0 11
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 7 1 0 0 9
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
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 3 0 2 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
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 3 0 0 0 3
New York Genome Center 0 0 3 0 0 0 3
Ambry Genetics 0 0 2 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 2 0 0 0 2
Integrated Genetics/Laboratory Corporation of America 1 1 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
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
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 0 1 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1

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