ClinVar Miner

Variants in gene GLIS3

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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 uncertain risk allele total
5 4 313 155 118 2 540

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign uncertain risk allele total
Neonatal diabetes mellitus with congenital hypothyroidism 5 3 204 47 48 1 301
not provided 0 1 91 114 81 0 272
Inborn genetic diseases 0 0 36 2 0 0 38
Monogenic diabetes 0 0 18 5 6 0 29
not specified 0 0 9 13 6 0 24
GLIS3-related condition 0 0 1 13 3 0 17
Transitory neonatal diabetes mellitus 0 0 0 2 8 1 11
Diabetes mellitus 0 0 0 0 2 0 2
Congenital aniridia 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign uncertain risk allele total
Illumina Laboratory Services, Illumina 0 0 166 31 48 0 245
Invitae 0 0 62 94 30 0 186
GeneDx 0 0 20 12 46 0 78
Fulgent Genetics, Fulgent Genetics 1 1 36 16 1 0 55
Ambry Genetics 0 0 36 2 0 0 38
Personalized Diabetes Medicine Program, University of Maryland School of Medicine 0 0 18 5 6 0 29
Genetic Services Laboratory, University of Chicago 0 1 7 12 2 0 22
PreventionGenetics, part of Exact Sciences 0 0 1 14 7 0 22
CeGaT Center for Human Genetics Tuebingen 0 0 4 12 6 0 22
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 4 2 10 2 18
New York Genome Center 0 1 14 0 0 0 15
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 9 0 9
Clinical Genetics, Academic Medical Center 0 0 0 5 4 0 9
Baylor Genetics 0 1 7 0 0 0 8
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 7 1 0 8
Eurofins Ntd Llc (ga) 0 0 3 1 3 0 7
OMIM 4 0 0 0 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 4 0 0 4
Revvity Omics, Revvity 0 0 3 0 0 0 3
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 3 0 0 0 3
Bionano Laboratories 0 0 3 0 0 0 3
Mendelics 0 0 0 0 2 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 0 1 0 0 1
Paul Sabatier University EA-4555, Paul Sabatier University 0 0 0 1 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1

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