ClinVar Miner

Variants studied for mitochondrial complex II deficiency, nuclear type 1

Included ClinVar conditions (7):
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
161 78 1356 897 58 8 2489

Gene and significance breakdown #

Total genes and gene combinations: 6
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SDHA 159 76 1337 895 57 8 2464
SDHAF1 1 0 10 1 1 0 13
LOC130064281, SDHAF1 0 0 3 1 0 0 4
SDHD 1 2 2 0 0 0 4
LOC130064279, SDHAF1 0 0 3 0 0 0 3
SDHB 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
Download table as spreadsheet
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 4 10 80 5 0 0 99
Illumina Laboratory Services, Illumina 0 0 61 15 11 0 87
Mendelics 0 2 0 3 3 0 8
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 7 7
OMIM 6 0 0 0 0 0 6
Baylor Genetics 2 1 3 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 3 1 0 0 0 4
Genome-Nilou Lab 0 0 0 0 4 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 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
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
3billion, Medical Genetics 1 0 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Clinical Genetics Laboratory, Emek Medical Center 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 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
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.