ClinVar Miner

Variants studied for Epilepsy, progressive myoclonic, 1B

Coded as:
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
4 2 309 177 17 4 505

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PRICKLE1 2 0 250 145 15 2 409
LOC126861509, PRICKLE1 0 0 50 28 2 1 80
LOC130007700, PRICKLE1 1 1 8 4 0 1 13
LOC126861509, LOC130007700, LOC130007701, PRICKLE1 0 0 1 0 0 0 1
LOC129390441, LOC130007703, LOC130007704, LOC130007705, LOC130007706, LOC130007707, PRICKLE1 0 1 0 0 0 0 1
TBC1D24 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1 0 300 174 17 0 492
Fulgent Genetics, Fulgent Genetics 0 0 6 2 0 0 8
Illumina Laboratory Services, Illumina 0 0 5 1 0 0 6
New York Genome Center 0 0 6 0 0 0 6
Revvity Omics, Revvity 0 0 5 0 0 0 5
OMIM 3 0 0 0 0 0 3
GeneReviews 0 0 0 0 0 3 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 3
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 1 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Mendelics 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
Division of Medical Genetics; Sainte-Justine Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1

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