ClinVar Miner

Variants studied for Deficiency of 2-methylbutyryl-CoA dehydrogenase

Coded as:
Minimum submission review status: Collection method:
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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
11 9 118 27 43 1 194

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ACADSB 11 9 118 27 42 1 193
ACADSB, IKZF5 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 1 1 93 15 37 0 147
Invitae 6 3 25 11 12 0 57
OMIM 8 0 0 0 0 0 8
Baylor Genetics 1 3 2 0 0 0 6
Nilou-Genome Lab 0 0 0 0 4 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 0 2
Elsea Laboratory,Baylor College of Medicine 0 0 1 0 0 0 1
Mendelics 0 0 0 1 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 0 1
New York Genome Center 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
School of Computer Science,University of Waterloo 1 0 0 0 0 0 1

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