ClinVar Miner

Variants studied for Ethylmalonic encephalopathy

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 not provided total
55 50 81 216 15 24 398

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
ETHE1 50 49 70 213 10 22 377
ETHE1, LOC130064595 5 1 10 3 5 2 20
CADM4, CEACAM16, CEACAM19, CEACAM20, ETHE1, IGSF23, IRGC, IRGQ, KCNN4, LYPD5, PINLYP, PLAUR, PVR, SMG9, SRRM5, XRCC1, ZNF112, ZNF155, ZNF180, ZNF221, ZNF222, ZNF223, ZNF224, ZNF225, ZNF226, ZNF227, ZNF229, ZNF230, ZNF233, ZNF234, ZNF235, ZNF283, ZNF284, ZNF285, ZNF404, ZNF428, ZNF45, ZNF575, ZNF576 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 40 18 49 214 6 0 327
Baylor Genetics 11 24 1 0 0 0 36
Natera, Inc. 6 2 16 6 5 0 35
Illumina Laboratory Services, Illumina 1 1 24 2 3 0 31
GeneReviews 0 0 0 0 0 24 24
ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen 5 0 4 0 9 0 18
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 9 0 0 0 0 15
Fulgent Genetics, Fulgent Genetics 5 6 2 0 0 0 13
OMIM 11 0 0 0 0 0 11
Neuberg Centre For Genomic Medicine, NCGM 2 1 3 0 0 0 6
Genome-Nilou Lab 0 0 2 0 3 0 5
Revvity Omics, Revvity 3 1 0 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 1 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 0 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 0 2 0 0 0 0 2
MGZ Medical Genetics Center 1 0 1 0 0 0 2
Centogene AG - the Rare Disease Company 2 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 1 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 1 0 0 0 2
Solve-RD Consortium 0 2 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Core Molecular Diagnostic Lab, McGill University Health Centre 1 0 0 0 0 0 1
3billion, Medical Genetics 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Medical Genetics Laboratory, AJA University of Medical Sciences 1 0 0 0 0 0 1

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