ClinVar Miner

Variants in gene CCBE1

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
6 0 101 20 28 5 150

Condition and significance breakdown #

Total conditions: 3
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Condition pathogenic uncertain significance likely benign benign not provided total
Hennekam lymphangiectasia-lymphedema syndrome 6 98 19 19 5 142
not specified 0 0 1 9 0 10
not provided 1 3 0 1 0 5

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 97 19 19 0 135
PreventionGenetics 0 0 0 9 0 9
OMIM 6 0 0 0 0 6
UniProtKB/Swiss-Prot 0 0 0 0 5 5
GeneDx 0 3 1 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 1 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 1 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 0 1

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