ClinVar Miner

Variants in gene CEP250

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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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
14 5 256 69 18 359

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 10 3 256 69 18 355
Cone-rod dystrophy and hearing loss 2 5 3 0 0 0 5
Retinal dystrophy 0 0 1 0 0 1
Usher syndrome 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 5
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 10 2 256 69 18 355
SIB Swiss Institute of Bioinformatics 2 3 1 0 0 6
OMIM 5 0 0 0 0 5
Sharon lab,Hadassah-Hebrew University Medical Center 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 1

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