ClinVar Miner

Variants in gene GAN

Minimum submission review status: Collection method:
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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
26 11 285 90 49 434

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Giant axonal neuropathy 1 22 5 272 65 31 376
not provided 3 4 16 19 17 58
not specified 1 0 3 24 5 31
Charcot-Marie-Tooth disease 0 0 5 0 0 5
Inborn genetic diseases 2 0 0 0 0 2
Intellectual disability 0 1 0 0 0 1
Muscular hypotonia 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 12 1 152 57 6 228
Illumina Clinical Services Laboratory,Illumina 0 1 82 15 26 124
GeneDx 2 3 12 20 18 55
Inherited Neuropathy Consortium 0 0 52 1 1 54
OMIM 9 0 0 0 0 9
PreventionGenetics, PreventionGenetics 0 0 0 5 3 8
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 4 2 0 7
Baylor Genetics 2 0 3 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 2 0 1 4
Dept. of Medical Genetics, Telemark Hospital Trust 0 0 3 0 0 3
Ambry Genetics 2 0 0 0 0 2
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 1 0 0 2
Fulgent Genetics,Fulgent Genetics 0 1 1 0 0 2
Service de genetique medicale, Pr. Levy,Hopital de La Timone Enfants, APHM 0 2 0 0 0 2
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 1 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 0 1 0 1
Institute of Human Genetics,Cologne University 1 0 0 0 0 1
Lineagen, Inc 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 1
Institute of Human Genetics,University of Wuerzburg 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 1
Medical Genetics Laboratory,Tarbiat Modares University 1 0 0 0 0 1

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