ClinVar Miner

Variants in gene DLAT

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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 8 127 125 41 289

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Pyruvate dehydrogenase E2 deficiency 11 7 65 90 15 182
not provided 0 2 30 45 35 107
Inborn genetic diseases 0 1 46 2 0 49
not specified 0 0 6 17 9 31
DLAT-related disorder 0 0 0 5 1 6
Leigh syndrome 0 0 3 0 0 3
Prostate cancer 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 7 3 58 92 14 174
GeneDx 0 2 24 41 37 104
Ambry Genetics 0 1 46 2 0 49
Breakthrough Genomics, Breakthrough Genomics 0 0 0 10 13 23
CeGaT Center for Human Genetics Tuebingen 0 0 3 8 0 11
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 1 7 10
PreventionGenetics, part of Exact Sciences 0 0 0 5 1 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 3 1 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 3 2 5
Genome-Nilou Lab 0 0 0 0 5 5
Genetic Services Laboratory, University of Chicago 0 1 0 3 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 3 4
Eurofins Ntd Llc (ga) 0 0 3 1 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 4 0 4
Baylor Genetics 0 0 3 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 3
OMIM 2 0 0 0 0 2
Revvity Omics, Revvity 0 0 2 0 0 2
Mendelics 0 0 2 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 1 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 1 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 2 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 1
Fulgent Genetics, Fulgent Genetics 0 1 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 1

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