ClinVar Miner

Variants in gene GLIS3

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
4 2 195 59 72 309

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Diabetes mellitus, neonatal, with congenital hypothyroidism 4 2 169 31 48 254
not provided 0 0 8 24 31 61
Monogenic diabetes 0 0 18 5 6 29
not specified 0 0 4 8 5 14
See cases 0 0 0 2 0 2
Congenital aniridia 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 166 31 48 245
Invitae 0 0 0 24 22 46
Personalized Diabetes Medicine Program,University of Maryland School of Medicine 0 0 18 5 6 29
Genetic Services Laboratory, University of Chicago 0 0 5 7 1 13
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 9 9
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 3 1 3 7
Baylor Genetics 0 1 5 0 0 6
PreventionGenetics, PreventionGenetics 0 0 0 1 4 5
OMIM 4 0 0 0 0 4
Lineagen, Inc 0 0 3 0 0 3
Mendelics 0 0 0 0 2 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 1
GeneDx 0 0 0 1 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 1
ISCA site 4 0 0 0 1 0 1
Paul Sabatier University EA-4555, Paul Sabatier University 0 0 0 1 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 0 1

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