ClinVar Miner

Variants studied for Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins

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Minimum submission review status: Collection method:
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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
22 37 69 23 22 1 160

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TRMU 11 17 69 23 22 1 129
NBAS 10 14 0 0 0 0 24
LARS1 1 4 0 0 0 0 5
LOC129933155, NBAS 0 1 0 0 0 0 1
MMUT 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 46 10 17 0 73
Natera, Inc. 3 3 15 13 16 0 50
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 13 28 0 0 0 0 41
OMIM 6 0 0 0 0 0 6
Revvity Omics, Revvity 0 2 3 0 0 0 5
Counsyl 0 2 2 0 1 0 5
Baylor Genetics 0 0 3 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 1 0 0 0 0 3
Elsea Laboratory, Baylor College of Medicine 1 1 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Diagnostic and Treatment Unit for Congenital Metabolic Diseases, Hopital Clínico Universitario de Santiago de Compostela (CHUS) 0 1 0 0 0 0 1

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