ClinVar Miner

Variants studied for Maple syrup urine disease, type 3

Coded as:
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 total
24 33 64 105 30 234

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
DLD 24 33 64 105 30 234

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 13 6 8 97 14 138
Illumina Clinical Services Laboratory,Illumina 0 0 41 6 23 70
Natera, Inc. 2 0 13 8 8 31
Counsyl 1 19 5 0 0 25
OMIM 12 0 0 0 0 12
Myriad Women's Health, Inc. 2 8 0 0 0 10
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 4 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 0 0 0 0 4
Baylor Genetics 0 0 3 0 0 3
Fulgent Genetics,Fulgent Genetics 1 0 1 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Mendelics 0 0 0 0 1 1
GeneReviews 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 1
Nilou-Genome Lab 0 0 0 1 0 1

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