ClinVar Miner

Variants studied for Joubert syndrome 22

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
1 2 0 3 1 7

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic likely benign benign total
PDE6D 1 2 3 1 7

Submitter and significance breakdown #

Total submitters: 4
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Submitter pathogenic likely pathogenic likely benign benign total
Invitae 0 0 3 1 4
OMIM 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 1
Centre for Arab Genomic Studies,Sheikh Hamdan Award for Medical Sciences 0 1 0 0 1

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