ClinVar Miner

Variants in gene ECHS1

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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 not provided total
36 45 112 127 39 5 320

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 23 23 83 123 39 2 277
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 25 26 20 1 6 3 64
Inborn genetic diseases 2 2 17 0 0 0 21
not specified 0 0 1 8 4 0 13
ECHS1-related disorder 1 3 0 8 0 0 12
See cases 1 1 1 0 0 0 3
Leigh syndrome 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 20 8 73 99 9 0 209
GeneDx 10 13 12 30 35 0 100
Breakthrough Genomics, Breakthrough Genomics 0 0 2 5 22 0 29
Ambry Genetics 2 2 17 0 0 0 21
PreventionGenetics, part of Exact Sciences 1 3 0 8 0 0 12
Mendelics 7 5 0 0 0 0 12
OMIM 11 0 0 0 0 0 11
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 6 2 0 0 0 11
CeGaT Center for Human Genetics Tuebingen 1 5 0 3 1 0 10
Baylor Genetics 3 2 4 0 0 0 9
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 3 5 0 0 0 9
Revvity Omics, Revvity 0 4 4 0 0 0 8
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 6 2 0 0 0 0 8
Fulgent Genetics, Fulgent Genetics 2 0 2 1 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 1 1 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 3 0 3
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 3 0 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 2 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Athena Diagnostics 1 0 1 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 0 0 0 2
Elsea Laboratory, Baylor College of Medicine 1 0 1 0 0 0 2
GeneReviews 0 0 0 0 0 2 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 1 0 0 0 0 2
Kids Research, The Children's Hospital at Westmead 0 2 0 0 0 0 2
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 2 2
Istanbul Faculty of Medicine, Istanbul University 2 0 0 0 0 0 2
3billion 1 1 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 1 0 0 0 0 2
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 1 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 1 0 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 1 0 0 0 0 0 1

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