ClinVar Miner

Variants studied for Mitochondrial complex III deficiency nuclear type 1

Coded as:
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Gene type:
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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 total
22 10 46 5 4 80

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BCS1L 21 10 21 1 4 50
TTC19 0 0 14 1 0 15
TTC19, ZSWIM7 0 0 3 2 0 5
BCS1L, LOC129935609 0 0 2 0 0 2
LOC130060309, TTC19, ZSWIM7 0 0 2 0 0 2
LOC126807509, UQCRQ 0 0 1 0 0 1
LOC130060310, TTC19, ZSWIM7 0 0 1 0 0 1
LOC130060312, TTC19 0 0 1 0 0 1
LYRM7 1 0 0 0 0 1
NCOR1, TTC19 0 0 1 0 0 1
UQCRQ 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 1 2 42 5 2 52
OMIM 9 0 0 0 0 9
Baylor Genetics 3 0 2 0 0 5
Genome-Nilou Lab 0 0 1 0 4 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 2 0 0 0 4
Counsyl 1 1 1 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 0 0 0 3
Mendelics 2 0 0 0 0 2
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 2 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 1
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 1 0 0 0 0 1
DASA 1 0 0 0 0 1
King Saud Bin Abdulaziz University for Health Sciences 1 0 0 0 0 1

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