ClinVar Miner

Variants in gene PRICKLE1

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 5 224 104 38 1 343

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Progressive myoclonus epilepsy with ataxia 3 4 186 51 13 0 255
not provided 0 1 56 22 17 1 96
not specified 0 0 7 42 23 0 63
Seizures 0 0 13 8 7 0 28
Intellectual disability 0 0 2 1 0 0 3
Rolandic epilepsy 3 0 0 0 0 0 3
See cases 0 1 2 0 0 0 3
Fetal akinesia sequence; Arthrogryposis multiplex congenita 0 0 1 0 0 0 1
Focal seizures with impairment of consciousness or awareness 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 0 181 55 13 0 249
GeneDx 0 1 31 44 32 0 108
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 24 0 11 0 35
Ambry Genetics 0 0 12 8 7 0 27
Athena Diagnostics Inc 0 0 9 1 7 0 17
Genetic Services Laboratory, University of Chicago 0 0 3 7 0 0 10
Illumina Clinical Services Laboratory,Illumina 0 0 5 1 0 0 6
Fulgent Genetics,Fulgent Genetics 0 0 4 0 0 0 4
OMIM 3 0 0 0 0 0 3
GeneReviews 3 0 0 0 0 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 2 1 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 1 0 0 3
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 3 0 0 0 0 0 3
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 2 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 0 0 2 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Mendelics 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 0 0 0 1
Clinical Genomics Laboratory,Laboratory for Precision Diagnostics, University of Washington 0 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Cirak Lab,University Hospital Cologne 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Section for Clinical Neurogenetics,University of Tübingen 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1

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