ClinVar Miner

Variants in gene FIG4

Minimum submission review status: Collection method:
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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
28 9 116 58 19 202

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Charcot-Marie-Tooth disease type 4 7 1 73 42 12 125
not provided 9 5 28 3 6 49
not specified 1 0 9 25 15 45
Amyotrophic Lateral Sclerosis, Dominant 0 0 20 15 4 39
Charcot-Marie-Tooth disease 1 0 14 0 0 15
Amyotrophic lateral sclerosis type 11 5 1 4 0 0 10
Charcot-Marie-Tooth disease, type 4J 9 0 1 0 0 10
Yunis Varon syndrome 4 0 1 0 0 5
Amyotrophic lateral sclerosis type 11; Charcot-Marie-Tooth disease, type 4J 0 0 0 0 3 3
FIG4-Related Disorders 0 1 2 0 0 3
Inborn genetic diseases 1 1 0 0 0 2
Polymicrogyria, bilateral temporooccipital 1 0 1 0 0 2
Amyotrophic lateral sclerosis type 11; Polymicrogyria, bilateral temporooccipital; Charcot-Marie-Tooth disease, type 4J; Yunis Varon syndrome 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 7 1 54 27 8 97
GeneDx 8 2 16 19 7 52
Illumina Clinical Services Laboratory,Illumina 1 1 21 15 4 42
Athena Diagnostics Inc 3 1 10 4 7 25
OMIM 15 0 0 0 0 15
Inherited Neuropathy Consortium 1 0 14 0 0 15
PreventionGenetics 0 0 0 3 9 12
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 4 2 3 9
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 4 0 0 6
Weber Lab,Hannover Medical School 2 1 3 0 0 6
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 3 0 1 5
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 3 0 0 3
Ambry Genetics 1 1 0 0 0 2
GeneReviews 1 0 0 0 0 1
Fulgent Genetics 1 0 0 0 0 1
Northcott Neuroscience Laboratory, ANZAC Research Institute 0 0 0 0 1 1
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 1

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