ClinVar Miner

Variants studied for Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures

Coded as:
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 total
10 6 10 0 0 22

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
WARS2 8 5 9 20
LOC129388598, WARS2, WARS2-IT1 1 0 0 1
LOC129931299, WARS2 1 1 1 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 8 0 0 8
Baylor Genetics 0 1 6 7
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 5 1 0 6
Mendelics 1 2 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 2 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 1
MGZ Medical Genetics Center 0 0 1 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 1
Reproductive Health Research and Development, BGI Genomics 0 1 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 1

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