ClinVar Miner

Variants studied for citrin deficiency

Included ClinVar conditions (6):
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
124 90 141 410 26 16 741

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SLC25A13 121 87 129 403 26 15 719
LOC129998833, SLC25A13 2 3 12 7 0 1 21
ASS1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 107 29 77 408 25 0 646
Baylor Genetics 25 59 2 0 0 0 86
Illumina Laboratory Services, Illumina 3 0 61 2 7 0 73
GeneReviews 0 0 0 0 0 15 15
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 8 4 0 0 0 0 12
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 12 0 0 0 0 0 12
Fulgent Genetics, Fulgent Genetics 3 3 5 0 0 0 11
OMIM 7 0 0 0 0 0 7
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 2 1 3 0 0 0 6
Genome-Nilou Lab 0 0 4 0 2 0 6
SingHealth Duke-NUS Institute of Precision Medicine 4 0 0 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 0 2 0 0 0 4
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital 3 0 1 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 2 0 0 0 0 0 2
Department of Pediatrics, The First Affiliated Hospital, Jinan University 2 0 0 0 0 0 2
Molecular Diagnostics Laboratory, Seoul National University Hospital 1 0 0 0 0 0 1
Central Laboratory, The First Affiliated Hospital, Jinan University 0 0 0 0 0 1 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Pars Genome Lab 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 0 1

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