ClinVar Miner

Variants studied for alkaptonuria

Included ClinVar conditions (1):
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
17 28 38 4 1 86

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
HGD 17 28 38 4 1 86

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 10 28 8 0 0 46
Illumina Clinical Services Laboratory,Illumina 3 0 29 4 1 37
GeneReviews 12 0 0 0 0 12
OMIM 10 0 0 0 0 10
Invitae 1 0 1 0 0 2
Fulgent Genetics 2 0 0 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Chehab Lab, University of California, San Francisco 1 0 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 0 0 0 0 1

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