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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
20	35	68	23	22	1	156

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	15	68	23	22	1	127
NBAS	8	15	0	0	0	0	23
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	11	26	0	0	0	0	37
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
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
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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