Variants studied for Multiple mitochondrial dysfunctions syndrome 1

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	total
9	5	56	35	11	108

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	total
NFU1	8	5	48	29	9	92
LOC129934004, NFU1	1	0	8	6	2	16

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	1	2	35	35	9	82
Illumina Laboratory Services, Illumina	0	0	22	0	7	29
OMIM	7	0	0	0	0	7
Baylor Genetics	1	1	0	0	0	2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	2	0	0	0	0	2
Institute of Human Genetics, University of Leipzig Medical Center	0	1	1	0	0	2
Revvity Omics, Revvity	1	0	0	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	1	0	0	0	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	1	0	0	0	1
Hadassah Hebrew University Medical Center	0	1	0	0	0	1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	1	0	0	0	0	1
Genome-Nilou Lab	0	0	0	0	1	1

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