ClinVar Miner

Variants studied for mitochondrial complex II deficiency, nuclear type

Included ClinVar conditions (14):
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 not provided total
181 89 1411 902 65 8 2582

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SDHA 159 76 1338 895 57 8 2464
SDHD 7 6 37 1 3 0 52
SDHB 9 6 17 4 2 0 35
SDHAF1 1 0 10 1 1 0 13
LOC130064279, SDHAF1 2 1 4 0 0 0 7
LOC130064281, SDHAF1 0 0 3 1 1 0 5
LOC126861339, SDHD 0 0 2 0 1 0 3
LOC130064280, SDHAF1 3 0 0 0 0 0 3

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 153 61 1290 881 52 0 2437
Fulgent Genetics, Fulgent Genetics 10 14 100 10 0 0 134
Illumina Laboratory Services, Illumina 0 0 61 15 11 0 87
Baylor Genetics 3 3 37 0 0 0 43
OMIM 17 0 0 0 0 0 17
Genome-Nilou Lab 0 0 0 0 11 0 11
Mendelics 0 2 0 3 3 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 3 1 0 0 0 7
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 7 7
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 3 0 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 1 2 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 1 0 0 0 2
Undiagnosed Diseases Network, NIH 1 0 1 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 0 0 0 0 2
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 2 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 0 0 2 0 0 0 2
3billion, Medical Genetics 1 0 1 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Emek Medical Center 0 1 0 0 0 0 1
Rare Disease Group, University of Exeter 0 1 0 0 0 0 1
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Arcensus 0 0 1 0 0 0 1

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