ClinVar Miner

Variants in gene CEP89

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 total
0 0 169 86 33 281

Condition and significance breakdown #

Total conditions: 3
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Condition uncertain significance likely benign benign total
not provided 126 78 33 235
not specified 66 8 0 74
CEP89-related disorder 0 3 1 4

Submitter and significance breakdown #

Total submitters: 8
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Submitter uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 123 77 33 233
Ambry Genetics 66 8 0 74
Breakthrough Genomics, Breakthrough Genomics 1 3 17 21
CeGaT Center for Human Genetics Tuebingen 3 2 0 5
PreventionGenetics, part of Exact Sciences 0 3 1 4
Revvity Omics, Revvity 1 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 1

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