ClinVar Miner

Variants studied for Pallister-Hall syndrome

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
31 0 47 31 94 203

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic uncertain significance likely benign benign total
GLI3 31 47 31 94 203

Submitter and significance breakdown #

Total submitters: 5
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Submitter pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 45 31 94 170
GeneReviews 30 0 0 0 30
OMIM 5 0 0 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 0 0 2
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 1

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