ClinVar Miner

Variants studied for Deficiency of hydroxymethylglutaryl-CoA lyase

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 total
12 15 34 6 4 67

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 total
HMGCL 12 15 34 5 3 65
GALE, HMGCL 0 0 0 1 1 2

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 6 15 11 0 0 32
Illumina Clinical Services Laboratory,Illumina 1 0 15 3 2 21
Invitae 2 0 8 3 2 15
OMIM 6 0 0 0 0 6
Integrated Genetics/Laboratory Corporation of America 4 0 0 0 0 4
Fulgent Genetics,Fulgent Genetics 2 0 0 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1

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