ClinVar Miner

Variants studied for Isovaleryl-CoA dehydrogenase deficiency

Coded as:
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Gene type:
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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
79 119 182 334 38 680

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
IVD 79 119 182 334 38 680

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 70 29 93 323 13 528
Illumina Laboratory Services, Illumina 1 0 62 10 23 96
Natera, Inc. 8 4 36 11 13 72
Baylor Genetics 23 44 1 0 0 68
Counsyl 0 33 12 1 0 46
Myriad Genetics, Inc. 1 12 1 0 0 14
Revvity Omics, Revvity 3 7 2 0 0 12
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 6 0 0 0 11
Fulgent Genetics, Fulgent Genetics 3 5 2 1 0 11
Genome-Nilou Lab 0 0 2 0 8 10
OMIM 3 0 0 0 0 3
Mendelics 3 0 0 0 0 3
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 3 0 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 1 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 0 0 2 0 0 2
3billion 1 0 1 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 2
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital 0 1 1 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Pediatric Metabolic Diseases, Hacettepe University 0 1 0 0 0 1
Laboratory of Genetics and Genomics, Institute for Developing Science and Health Initiatives Foundation 1 0 0 0 0 1
New York Genome Center 0 1 0 0 0 1
DASA 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 1

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