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
37 52 120 108 36 318

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 37 52 120 108 36 318

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 29 15 38 98 11 191
Illumina Clinical Services Laboratory,Illumina 1 0 62 10 23 96
Counsyl 0 33 12 1 0 46
Natera, Inc. 0 2 20 2 4 28
Baylor Genetics 11 5 1 0 0 17
Nilou-Genome Lab 0 0 2 0 8 10
Fulgent Genetics,Fulgent Genetics 3 1 0 0 0 4
OMIM 3 0 0 0 0 3
Mendelics 3 0 0 0 0 3
Department of Genetics,Sultan Qaboos University Hospital, Oman 3 0 0 0 0 3
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
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
The Molecular Genetic Diagnosis Center, 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
Myriad Women's Health, Inc. 1 0 0 0 0 1
New York Genome Center 0 1 0 0 0 1

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