ClinVar Miner

Variants studied for Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency

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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
45 18 320 243 11 628

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MTO1 45 18 318 243 10 625
LOC129996722, MTO1 0 0 2 0 0 2
EEF1A1, MTO1 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 40 6 305 242 11 604
Baylor Genetics 0 1 9 0 0 10
Fulgent Genetics, Fulgent Genetics 1 2 6 1 0 10
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 5 0 0 0 9
OMIM 4 0 0 0 0 4
Revvity Omics, Revvity 0 0 3 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 0 1 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 2
Phosphorus, Inc. 0 0 2 0 0 2
Department of Medical Laboratory, Affiliated Hospital of Southwest Medical University 0 1 1 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 1

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