ClinVar Miner

Variants studied for Mitochondrial complex II deficiency, nuclear type 1

Coded as:
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
11 7 75 18 15 124

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SDHA 10 5 58 16 14 101
SDHAF1 1 0 10 1 1 13
LOC130064281, SDHAF1 0 0 3 1 0 4
LOC130064279, SDHAF1 0 0 3 0 0 3
SDHD 0 2 0 0 0 2
SDHB 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 61 15 11 87
Mendelics 0 2 0 3 3 8
OMIM 6 0 0 0 0 6
Baylor Genetics 2 1 3 0 0 6
Genome-Nilou Lab 0 0 0 0 4 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Undiagnosed Diseases Network, NIH 1 0 1 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 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 2
3billion 1 0 1 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 1
Clinical Genetics Laboratory, Emek Medical Center 0 1 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 0 1 0 0 1
Rare Disease Group, University of Exeter 0 1 0 0 0 1
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 0 0 1 0 0 1
New York Genome Center 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1

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