ClinVar Miner

Variants in gene combination C12orf29, CEP290

See also:
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 not provided total
0 3 9 4 0 1 17

Condition and significance breakdown #

Total conditions: 10
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Condition likely pathogenic uncertain significance likely benign not provided total
Bardet-Biedl syndrome 0 4 1 0 5
Joubert syndrome 0 4 1 0 5
Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2 3 0 0 5
Leber congenital amaurosis 0 4 1 0 5
Meckel-Gruber syndrome 0 4 1 0 5
Renal dysplasia and retinal aplasia 0 4 1 0 5
not provided 1 3 0 1 5
not specified 0 1 4 0 5
Bardet-Biedl syndrome 14 0 1 0 0 1
Joubert syndrome 5 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 9
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Submitter likely pathogenic uncertain significance likely benign not provided total
Invitae 2 3 0 0 5
Illumina Clinical Services Laboratory,Illumina 0 4 1 0 5
GeneDx 1 1 1 0 3
PreventionGenetics 0 0 3 0 3
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 2 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 1 0 1
Retina International 0 0 0 1 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 0 1

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