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
35 25 91 223 13 5 355

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 33 25 88 221 12 5 347
GALE, LOC129929682 0 0 3 1 0 0 4
GALE, HMGCL 2 0 0 0 1 0 3
GALE, HMGCL, LOC129929682 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 25 12 59 215 12 0 323
Illumina Laboratory Services, Illumina 0 0 31 7 3 0 41
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 5 0 0 0 0 8
OMIM 7 0 0 0 0 0 7
GeneReviews 2 0 0 0 0 5 7
Fulgent Genetics, Fulgent Genetics 0 1 3 0 0 0 4
Baylor Genetics 1 0 2 0 0 0 3
Department of Genetics, Suzhou Beikang Medical Laboratory 0 3 0 0 0 0 3
Revvity Omics, Revvity 0 2 0 0 0 0 2
Mendelics 0 1 0 1 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 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
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
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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