ClinVar Miner

Variants studied for Progressive myoclonus epilepsy with ataxia

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 total
4 3 156 33 20 214

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PRICKLE1 3 3 156 33 20 213
TBC1D24 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 0 0 125 29 13 167
Illumina Clinical Services Laboratory,Illumina 0 0 31 4 7 42
Fulgent Genetics,Fulgent Genetics 0 0 4 0 0 4
OMIM 3 0 0 0 0 3
GeneReviews 3 0 0 0 0 3
Mendelics 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 1
Division of Medical Genetics; Sainte-Justine Hospital 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1
Section for Clinical Neurogenetics,University of Tübingen 0 1 0 0 0 1

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