ClinVar Miner

Variants studied for Bietti crystalline corneoretinal dystrophy

Included ClinVar conditions (1):
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
35 0 63 15 13 123

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic uncertain significance likely benign benign total
CYP4V2 34 62 15 13 121
ABCA4 1 1 0 0 2

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 2 62 15 13 92
GeneReviews 33 0 0 0 33
OMIM 9 0 0 0 9
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 1 1 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 0 0 0 2
Department of Ophthalmology and Visual Sciences Kyoto University 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 1

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