ClinVar Miner

Variants studied for Isovaleryl-CoA dehydrogenase deficiency

Coded as:
Minimum submission review status: Collection method:
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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
35 46 101 25 27 208

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 35 46 101 25 27 208

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 1 0 62 10 23 96
Invitae 24 11 32 16 6 89
Counsyl 0 33 12 1 0 46
Baylor Genetics 11 4 0 0 0 15
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
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
Institute of Human Genetics, University of Leipzig Medical Center 1 0 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

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