ClinVar Miner

Variants studied for essential tremor

Included ClinVar conditions (6):
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
28 6 134 108 39 310

Gene and significance breakdown #

Total genes and gene combinations: 21
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
FUS 21 1 102 100 29 249
TENM4 4 0 21 0 5 29
DRD3 0 0 1 8 5 14
CCDC183 0 1 0 0 0 1
DNAJC13 1 0 0 0 0 1
DNHD1 0 1 0 0 0 1
FAM228B 0 0 1 0 0 1
GEMIN5 0 0 1 0 0 1
GH-LCR, SCN4A 1 0 0 0 0 1
GPR151 0 1 0 0 0 1
MMP10 0 0 1 0 0 1
MS4A14 0 0 1 0 0 1
MYO6 0 0 1 0 0 1
NOTCH2NLC 1 0 0 0 0 1
OR5K3 0 0 1 0 0 1
OR5K4 0 0 1 0 0 1
OR6C1 0 0 1 0 0 1
PKD1L3 0 0 1 0 0 1
PRSS48, SH3D19 0 0 1 0 0 1
TGM4 0 1 0 0 0 1
ZNF528 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 18 1 100 98 29 246
University of Washington Center for Mendelian Genomics, University of Washington 0 5 10 0 0 15
Illumina Laboratory Services, Illumina 0 0 0 8 5 13
Revvity Omics, Revvity 0 0 8 0 0 8
OMIM 7 0 0 0 0 7
Genome-Nilou Lab 0 0 0 0 6 6
Neuberg Centre For Genomic Medicine, NCGM 0 0 5 0 0 5
Baylor Genetics 0 0 4 0 0 4
Fulgent Genetics, Fulgent Genetics 0 0 1 2 1 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 2
Breda Genetics srl 0 0 2 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 1
MGZ Medical Genetics Center 0 0 1 0 0 1
CVG, University of British Columbia 1 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 0 0 0 1
Pars Genome Lab 0 0 0 0 1 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 1
Cologne Center for Genomics, Faculty of Medicine, University of Cologne 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 1

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