ClinVar Miner

Variants studied for Unverricht-Lundborg syndrome

Included ClinVar conditions (4):
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
49 16 675 186 69 982

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PRICKLE1 3 4 186 51 13 255
SCARB2 7 1 106 39 6 159
PRICKLE2 0 0 120 12 26 158
GOSR2, LRRC37A2 5 2 95 29 11 140
EPM2A 8 1 62 21 4 96
CSTB 17 6 52 18 6 90
EPM2A, FBXO30-DT 4 2 49 16 2 73
KCTD7 0 0 2 0 1 3
AGPAT3, CSTB, GATD3A, HSF2BP, PDXK, PWP2, RRP1, RRP1B, SIK1, TRAPPC10 1 0 1 0 0 2
CSTB, LOC109029533 2 0 0 0 0 2
GOSR2 1 0 1 0 0 2
CSTB, HSF2BP, PDXK, RRP1B, SIK1 0 0 1 0 0 1
TBC1D24 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 33 5 502 162 29 731
Illumina Clinical Services Laboratory,Illumina 2 0 176 24 40 242
GeneReviews 17 0 0 0 0 17
OMIM 9 0 0 0 0 9
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 5 0 0 0 6
Fulgent Genetics,Fulgent Genetics 1 0 4 0 0 5
Mendelics 0 2 1 0 1 4
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 1 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 1 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 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
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 1
TIDEX, University of British Columbia 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 1
Section for Clinical Neurogenetics,University of Tübingen 0 1 0 0 0 1

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