ClinVar Miner

Variants in gene combination CPLANE1, NIPBL

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
8 4 9 8 13 40

Condition and significance breakdown #

Total conditions: 6
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 1 2 1 0 11 15
Cornelia de Lange Syndrome 0 0 7 3 0 10
Cornelia de Lange syndrome 1 7 2 1 0 0 10
not specified 0 0 0 2 2 4
History of neurodevelopmental disorder 0 0 0 3 0 3
See cases 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 10
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Genetic Services Laboratory, University of Chicago 6 2 1 2 2 13
Illumina Clinical Services Laboratory,Illumina 0 0 7 3 0 10
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 10 10
Ambry Genetics 0 0 0 3 0 3
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 1 0 0 2
Athena Diagnostics Inc 0 0 0 0 1 1
GeneDx 0 1 0 0 0 1
Invitae 1 0 0 0 0 1
ISCA site 1 1 0 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.