ClinVar Miner

Variants studied for beta-ureidopropionase deficiency

Included ClinVar conditions (1):
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
11 4 48 9 12 74

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
UPB1 11 4 45 8 10 68
LOC130067121, UPB1 0 0 3 1 2 6

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 42 7 12 61
OMIM 9 0 0 0 0 9
Fulgent Genetics, Fulgent Genetics 2 0 3 1 0 6
Baylor Genetics 2 0 2 0 0 4
Elsea Laboratory, Baylor College of Medicine 2 0 2 0 0 4
Revvity Omics, Revvity 2 1 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 0 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 3 0 0 0 3
Mendelics 0 0 1 1 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 2
New York Genome Center 0 0 2 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 1

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