ClinVar Miner

Variants studied for UDPglucose-4-epimerase deficiency

Coded as:
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 not provided total
30 21 87 211 12 5 331

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GALE 30 21 84 209 11 5 325
GALE, LOC129929682 0 0 3 1 0 0 4
GALE, HMGCL 0 0 0 0 1 0 1
GALE, HMGCL, LOC129929682 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 22 12 57 203 11 0 305
Illumina Laboratory Services, Illumina 0 0 31 7 3 0 41
OMIM 7 0 0 0 0 0 7
GeneReviews 2 0 0 0 0 5 7
Fulgent Genetics, Fulgent Genetics 0 4 3 0 0 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 3 0 0 0 0 5
Revvity Omics, Revvity Omics 0 2 0 0 0 0 2
Mendelics 0 1 0 1 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 1 0 0 0 2
Genome-Nilou Lab 0 0 1 0 1 0 2
Baylor Genetics 0 0 1 0 0 0 1
Counsyl 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 1
DASA 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1

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