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 3 140 77 42 1 234

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Progressive myoclonus epilepsy with ataxia 3 2 100 29 19 0 141
not provided 0 1 52 9 17 1 79
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 0 2 0 0 0 2

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 0 1 31 44 32 0 108
Invitae 0 0 62 20 12 0 94
Illumina Clinical Services Laboratory,Illumina 0 0 41 9 7 0 57
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 7 0 6 0 13
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
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 3 0 0 0 0 0 3
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 0 0 2 0 0 0 2
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 2 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
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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1

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