Variants in gene NDUFAF1

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
6	2	125	45	25	182

Condition and significance breakdown #

Total conditions: 6

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
not provided	2	1	78	33	23	132
not specified	0	0	49	11	5	63
Mitochondrial complex I deficiency, nuclear type 1	0	0	27	4	4	35
Mitochondrial complex 1 deficiency, nuclear type 11	4	1	6	0	4	13
NDUFAF1-related disorder	0	0	0	4	0	4
Mitochondrial complex I deficiency	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 22

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	0	0	64	23	11	98
GeneDx	2	1	19	12	23	57
Ambry Genetics	0	0	47	1	0	48
Illumina Laboratory Services, Illumina	0	0	27	4	4	35
Mayo Clinic Laboratories, Mayo Clinic	0	0	4	1	6	11
Breakthrough Genomics, Breakthrough Genomics	0	0	1	3	6	10
CeGaT Center for Human Genetics Tuebingen	0	0	2	4	0	6
OMIM	4	0	0	0	0	4
Genetic Services Laboratory, University of Chicago	0	0	0	4	0	4
PreventionGenetics, part of Exact Sciences	0	0	0	4	0	4
Eurofins Ntd Llc (ga)	0	0	2	1	0	3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	0	0	2	2
Revvity Omics, Revvity	0	0	2	0	0	2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	0	2	0	0	2
Fulgent Genetics, Fulgent Genetics	0	0	2	0	0	2
Genome-Nilou Lab	0	0	0	0	2	2
Baylor Genetics	0	0	1	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	0	1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	0	0	0	1	0	1
Department of Pathology and Laboratory Medicine, Sinai Health System	0	1	0	0	0	1
New York Genome Center	0	0	1	0	0	1

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