ClinVar Miner

Variants studied for combined oxidative phosphorylation defect type 20

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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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 not provided total
15 12 28 0 8 1 56

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign not provided total
VARS2 11 11 26 6 0 47
LOC126859646, VARS2 4 1 2 2 1 9

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance benign not provided total
Baylor Genetics 1 1 13 0 0 15
OMIM 10 0 0 0 0 10
Genome-Nilou Lab 0 0 0 7 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 3 0 0 0 6
Mendelics 2 1 0 3 0 6
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 3 0 0 0 4
3billion 1 1 2 0 0 4
Revvity Omics, Revvity 0 0 3 0 0 3
MGZ Medical Genetics Center 1 1 1 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 3
Undiagnosed Diseases Network, NIH 0 0 3 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 0 2
New York Genome Center 0 1 1 0 0 2
Department of Pediatrics, Salzburger Landeskliniken & Paracelsus Medical University 2 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 1 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 1
Fulgent Genetics, Fulgent Genetics 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 1
GenomeConnect, ClinGen 0 0 0 0 1 1
DASA 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1

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