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 4 194 92 43 1 306

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Progressive myoclonus epilepsy with ataxia 3 3 156 33 20 0 213
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
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

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 0 125 41 13 0 179
GeneDx 0 1 31 44 32 0 108
Illumina Clinical Services Laboratory,Illumina 0 0 31 4 7 0 42
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 0 6 0 15
Genetic Services Laboratory, University of Chicago 0 0 3 7 0 0 10
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
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
Division of Genomic Diagnostics,The 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 Cytogenomics 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
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

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