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
21 25 51 28 27 142

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 21 25 51 28 27 142

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 41 6 23 70
Invitae 10 5 8 22 8 53
Counsyl 1 19 5 0 0 25
OMIM 12 0 0 0 0 12
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 4 4
Integrated Genetics/Laboratory Corporation of America 2 1 0 0 0 3
Myriad Women's Health, Inc. 2 1 0 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
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 1

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