ClinVar Miner

Variants studied for L-2-hydroxyglutaric aciduria

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
40 14 111 86 20 1 260

Gene and significance breakdown #

Total genes and gene combinations: 3
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
L2HGDH 38 13 97 74 17 1 229
DMAC2L, L2HGDH 1 1 14 12 3 0 30
L2HGDH, LINC01588, LINC01599, LOC125024479, LOC125024480, LOC129390630, LOC130055566, LOC130055567, LOC130055568, LOC130055569, LOC130055570, LOC130055571, LOC130055572, LOC130055573, LOC130055574, LOC130055575, LOC130055576, LOC130055577, LOC130055578, LOC130055579, LOC130055580, LOC130055581, LOC130055582, LOC130055583, LOC130055584, LOC130055585, LOC130055586, LOC130055587, LOC130055588, LOC130055589, SOS2, VCPKMT 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 22 5 94 85 20 0 226
OMIM 7 0 0 0 0 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 3 0 0 0 0 6
Baylor Genetics 2 0 3 0 0 0 5
Fulgent Genetics, Fulgent Genetics 1 0 2 2 0 0 5
Genetic Services Laboratory, University of Chicago 3 1 1 0 0 0 5
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 1 0 3 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 1 1 2 0 0 0 4
Department of Human Genetics, Hannover Medical School 2 1 0 0 0 0 3
Dubai Health Genomic Medicine Center, Dubai Health 0 0 2 0 1 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
3billion 1 1 0 0 0 0 2
Breda Genetics srl, Breda Genetics srl 1 0 1 0 0 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 0 1 0 0 0 2
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 1 0 1 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 2 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 2
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital 0 2 0 0 0 0 2
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 1 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 0 2
MGZ Medical Genetics Center 0 2 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 1
Diagnosticos Moleculares y Geneticos Departamento, Dimygen Laboratorio 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 0 0 1 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 0 1
Stanford Starfish Project, Stanford University 1 0 0 0 0 0 1
Variantyx, Inc. 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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.