ClinVar Miner

Variants in gene WARS2

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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
14 12 75 40 13 138

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 2 6 48 36 13 101
Inborn genetic diseases 1 0 31 0 0 32
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures 8 6 9 0 0 20
WARS2-related disorder 2 3 1 9 3 17
Parkinsonism-dystonia 3, childhood-onset 5 3 1 0 0 9
not specified 0 0 2 0 0 2
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures; Parkinsonism-dystonia 3, childhood-onset 0 0 0 1 0 1
See cases 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 1 0 40 35 9 85
Ambry Genetics 1 0 31 0 0 32
GeneDx 1 4 9 0 7 21
PreventionGenetics, part of Exact Sciences 0 2 1 9 3 15
Breakthrough Genomics, Breakthrough Genomics 0 0 3 2 9 14
OMIM 11 0 0 0 0 11
Baylor Genetics 0 1 5 0 0 6
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 1 0 0 0 4
CeGaT Center for Human Genetics Tuebingen 0 0 1 2 1 4
Genetic Services Laboratory, University of Chicago 0 2 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 1 0 0 2
MGZ Medical Genetics Center 0 1 1 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 1 0 0 2
Mendelics 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 2 0 0 0 2
Undiagnosed Diseases Network, NIH 0 2 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 2
Revvity Omics, Revvity 0 0 1 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 1
3billion 0 0 0 1 0 1
Pediatric Department, Xiangya Hospital, Central South University 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 1

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