ClinVar Miner

Variants in gene PLCB1

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
11 3 331 170 41 497

Condition and significance breakdown #

Total conditions: 9
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Early infantile epileptic encephalopathy 12 6 2 287 111 29 411
not provided 4 0 48 44 13 104
Seizures 0 0 8 21 14 43
Early Infantile Epileptic Encephalopathy, Autosomal Recessive 0 0 12 16 6 34
not specified 0 0 2 14 18 30
Abnormality of brain morphology 0 1 0 0 0 1
Epileptic encephalopathy, early infantile, 1 0 0 0 1 0 1
Rolandic epilepsy 1 0 0 0 0 1
See cases 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 26
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 5 0 199 125 22 351
Illumina Clinical Services Laboratory,Illumina 0 0 103 23 12 138
Ambry Genetics 0 0 6 21 14 41
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 27 3 4 34
Genetic Services Laboratory, University of Chicago 0 0 5 9 12 26
Athena Diagnostics Inc 0 0 2 2 13 17
PreventionGenetics, PreventionGenetics 0 0 0 3 13 16
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 7 4 0 11
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 2 5 7
Lineagen, Inc 3 0 4 0 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 6 6
Baylor Genetics 0 0 5 0 0 5
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 4 4
Fulgent Genetics,Fulgent Genetics 0 0 4 0 0 4
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 4 0 0 4
GeneDx 1 0 1 1 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 2 0 3
New York Genome Center 0 0 3 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 1 0 2
OMIM 1 0 0 0 0 1
ISCA site 1 0 0 1 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 1
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 1
Broad Institute Rare Disease Group, Broad Institute 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.