ClinVar Miner

Variants studied for combined oxidative phosphorylation defect type 17

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 total
37 18 387 388 34 857

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ELAC2 37 18 387 388 34 857

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 31 13 379 387 32 842
Genome-Nilou Lab 0 0 0 0 9 9
Fulgent Genetics, Fulgent Genetics 0 0 5 1 2 8
Revvity Omics, Revvity 1 1 4 0 0 6
Baylor Genetics 1 1 3 0 0 5
OMIM 4 0 0 0 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 2 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 2
Mendelics 0 0 0 0 2 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 1 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 1 0 0 2
3billion 0 1 1 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 1
Centre of Medical Genetics, University of Antwerp 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 1
Phosphorus, Inc. 0 0 1 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 1 0 0 0 0 1

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