ClinVar Miner

Variants studied for L-2-hydroxyglutaric aciduria

Included ClinVar conditions (1):
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
31 8 105 65 19 1 222

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
L2HGDH 29 7 91 57 16 1 195
DMAC2L, L2HGDH 1 1 14 8 3 0 26
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: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 16 3 91 64 19 0 193
OMIM 7 0 0 0 0 0 7
Genetic Services Laboratory, University of Chicago 3 1 1 0 0 0 5
Fulgent Genetics, Fulgent Genetics 1 0 2 2 0 0 5
Baylor Genetics 1 0 3 0 0 0 4
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 2 0 0 0 0 3
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 2 0 1 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 0 2 0 0 0 3
MGZ Medical Genetics Center 0 2 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 1 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 0 2
Breda Genetics srl 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
Revvity Omics, Revvity 0 0 1 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 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
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 0 0 1 0 0 0 1

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