ClinVar Miner

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

Coded as:
Minimum submission review status: Collection method:
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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
24 44 68 23 22 1 168

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 20 68 23 22 1 131
NBAS 12 16 0 0 0 0 28
LARS1 1 6 0 0 0 0 7
LOC129933155, NBAS 0 1 0 0 0 0 1
MMUT 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 45 10 17 0 72
Natera, Inc. 3 3 15 13 16 0 50
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 15 33 0 0 0 0 48
OMIM 6 0 0 0 0 0 6
Counsyl 0 2 2 0 1 0 5
Revvity Omics, Revvity 0 2 3 0 0 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
Genome-Nilou Lab 0 0 0 0 2 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 0 2
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 2 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 0 1
Diagnostic and Treatment Unit for Congenital Metabolic Diseases, Hopital Clínico Universitario de Santiago de Compostela (CHUS) 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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1

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