ClinVar Miner

Variants studied for combined oxidative phosphorylation defect type 14

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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 not provided total
56 30 202 161 20 1 444

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FARS2 39 18 115 99 11 0 267
FARS2, LOC126859565 12 10 84 61 9 1 166
FARS2, LYRM4 3 1 2 0 0 0 6
F13A1, FARS2, LYRM4, NRN1 1 0 0 0 0 0 1
F13A1, FARS2, NRN1 0 0 1 0 0 0 1
FARS2, LOC121099722, LOC126859565, LOC129995674, LOC129995675, LOC129995676, LOC129995677, LOC129995678 0 1 0 0 0 0 1
FARS2, LOC126859565, LOC129995678 1 0 0 0 0 0 1
FARS2, LOC129995672, LYRM4 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 45 12 187 154 14 0 412
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 1 13 19 10 11 0 54
Baylor Genetics 0 0 9 0 0 0 9
OMIM 6 0 0 0 0 0 6
Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades, CHU Paris - Hôpital Necker-Enfants Malades 5 0 0 0 0 0 5
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 2 0 0 0 0 4
Fulgent Genetics, Fulgent Genetics 0 0 2 1 0 0 3
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 2 0 0 0 0 0 2
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Mendelics 0 0 0 1 0 0 1
GeneReviews 0 0 0 0 0 1 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
3billion 0 1 0 0 0 0 1

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