ClinVar Miner

Variants in gene combination C12orf29, CEP290

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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
8 4 20 8 1 1 36

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 7 1 11 1 1 0 21
not provided 0 2 3 3 0 1 9
Bardet-Biedl syndrome 14 0 0 6 0 0 0 6
Joubert syndrome 5 0 0 6 0 0 0 6
Leber congenital amaurosis 10 0 0 5 0 0 0 5
Meckel syndrome, type 4 0 0 5 0 0 0 5
Senior-Loken syndrome 6 0 0 5 0 0 0 5
not specified 0 0 1 4 0 0 5
Retinal dystrophy 1 0 2 0 0 0 3
Bardet-Biedl syndrome 0 0 1 1 0 0 2
Joubert syndrome 0 0 1 1 0 0 2
Leber congenital amaurosis 0 0 1 1 0 0 2
Meckel-Gruber syndrome 0 0 1 1 0 0 2
Renal dysplasia and retinal aplasia 0 0 1 1 0 0 2
Rod-cone dystrophy 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 7 1 11 4 1 0 24
Illumina Clinical Services Laboratory,Illumina 0 0 6 1 0 0 7
GeneDx 0 1 1 1 0 0 3
PreventionGenetics,PreventionGenetics 0 0 0 3 0 0 3
Blueprint Genetics 1 0 2 0 0 0 3
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 2 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 1 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 0 1 0 0 1
Retina International 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1

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