ClinVar Miner

Variants in gene PRICKLE2

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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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
3 0 117 29 23 157

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic uncertain significance likely benign benign total
Progressive myoclonic epilepsy 0 60 12 14 86
Epilepsy, progressive myoclonic 5 1 32 8 10 51
not provided 0 22 1 3 26
not specified 0 4 12 4 16
Rolandic epilepsy 1 0 0 0 1
Seizures 0 1 0 0 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 60 12 14 86
Invitae 0 30 8 9 47
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 17 4 3 24
Athena Diagnostics Inc 0 5 3 4 12
Genetic Services Laboratory, University of Chicago 0 1 6 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 3 0 0 3
OMIM 0 2 0 0 2
Baylor Miraca Genetics Laboratories, 2 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 1 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 1
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 1

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