ClinVar Miner

Variants in gene NDUFA12

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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
12 5 43 33 12 1 101

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 4 3 27 25 12 0 71
Inborn genetic diseases 0 0 15 2 0 0 17
not specified 0 0 4 9 0 0 13
Mitochondrial complex 1 deficiency, nuclear type 23 9 2 2 0 0 0 12
Leigh syndrome 0 0 2 0 0 1 3
NDUFA12-related disorder 0 0 0 2 0 0 2

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 4 1 20 17 1 0 43
GeneDx 1 2 7 17 11 0 38
Ambry Genetics 0 0 15 2 0 0 17
Breakthrough Genomics, Breakthrough Genomics 0 0 0 4 5 0 9
OMIM 8 0 0 0 0 0 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 4 0 0 0 5
CeGaT Center for Human Genetics Tuebingen 0 0 1 2 0 0 3
Baylor Genetics 0 1 1 0 0 0 2
Revvity Omics, Revvity 0 0 2 0 0 0 2
PreventionGenetics, part of Exact Sciences 0 0 0 2 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 2 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 2 0 0 0 2
Mendelics 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 0 1

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