ClinVar Miner

Variants in gene MT-ND5

Minimum submission review status: Collection method:
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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 risk factor not provided total
16 5 123 61 106 1 2 300

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Leigh syndrome 3 2 112 48 104 0 0 268
not provided 1 0 7 13 2 0 2 25
Leber hereditary optic neuropathy 8 1 1 0 0 0 0 9
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 6 1 0 0 0 0 0 7
Leigh syndrome due to mitochondrial complex I deficiency 5 0 0 0 0 0 0 5
Mitochondrial diseases 2 1 0 0 0 0 0 3
Mitochondrial myopathy, infantile, transient 1 0 1 0 0 0 0 2
Hearing impairment; Microcephaly; Developmental delay; Congenital cardiomyopathy 0 0 1 0 0 0 0 1
MERRF syndrome 1 0 0 0 0 0 0 1
Parkinson disease 6, autosomal recessive early-onset 0 0 0 0 0 1 0 1
not specified 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 5 4 113 48 104 0 0 274
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 4 13 2 0 0 20
OMIM 10 0 0 0 0 1 0 11
GeneReviews 7 0 1 0 0 0 0 8
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 3 0 0 0 0 3
Wellcome Centre for Mitochondrial Research,Newcastle University 2 0 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 1 0 0 0 0 1
Center for Neuroscience and Cell Biology,University of Coimbra, Portugal 0 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 1

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