ClinVar Miner

Variants studied for Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

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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
11 159 206 44 45 2 446

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
LRPPRC 11 157 203 42 45 2 439
LOC129388857, LRPPRC 0 2 3 2 0 0 7

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 129 5 26 0 160
Baylor Genetics 6 70 10 0 0 0 86
Natera, Inc. 1 0 42 32 10 0 85
Counsyl 1 35 25 6 0 0 67
Myriad Genetics, Inc. 0 54 0 0 0 0 54
Genome-Nilou Lab 0 0 2 1 23 0 26
Revvity Omics, Revvity 1 2 15 0 0 0 18
Fulgent Genetics, Fulgent Genetics 0 2 10 5 1 0 18
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 7 0 0 0 0 8
OMIM 7 0 0 0 0 0 7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 1 3 0 5
Centogene AG - the Rare Disease Company 0 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 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
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 1

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