ClinVar Miner

Variants in gene CEP170B

Minimum submission review status: Collection method:
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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
0 0 228 51 30 308

Condition and significance breakdown #

Total conditions: 5
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Condition uncertain significance likely benign benign total
not specified 225 10 0 235
CEP170B-related disorder 1 37 29 67
not provided 2 5 2 9
Heart, malformation of 2 0 0 2
EBV-positive nodal T- and NK-cell lymphoma 0 1 0 1

Submitter and significance breakdown #

Total submitters: 7
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Submitter uncertain significance likely benign benign total
Ambry Genetics 225 10 0 235
PreventionGenetics, part of Exact Sciences 1 37 29 67
CeGaT Center for Human Genetics Tuebingen 0 5 0 5
Breakthrough Genomics, Breakthrough Genomics 2 0 2 4
Labcorp Genetics (formerly Invitae), Labcorp 0 0 2 2
Center for Reproductive Medicine, Peking University Third Hospital 2 0 0 2
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 1 0 1

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