Variants studied for UDPglucose-4-epimerase deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
33	21	88	211	12	5	334

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	31	21	85	209	11	5	326
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: 19

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	24	12	57	203	11	0	307
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	4	0	0	0	0	6
Baylor Genetics	1	0	2	0	0	0	3
Revvity Omics, Revvity	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
Counsyl	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
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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