ClinVar Miner

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

Included ClinVar conditions (2):
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
19 39 68 25 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 19 68 25 22 1 132
NBAS 7 15 0 0 0 0 22
LARS1 1 3 0 0 0 0 4
LOC129933155, NBAS 0 1 0 0 0 0 1
MMUT 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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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 10 26 0 0 0 0 36
Fulgent Genetics, Fulgent Genetics 2 5 3 3 0 0 13
OMIM 6 0 0 0 0 0 6
Revvity Omics, Revvity Omics 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
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
UCLA Clinical Genomics Center, UCLA 0 1 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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