ClinVar Miner

Variants studied for citrin deficiency

Included ClinVar conditions (5):
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
52 19 93 68 14 1 228

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SLC25A13 52 19 93 68 14 1 228

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 39 12 30 66 11 0 158
Illumina Clinical Services Laboratory,Illumina 3 0 61 2 7 0 73
GeneReviews 16 0 0 0 0 0 16
Baylor Genetics 4 4 1 0 0 0 9
OMIM 7 0 0 0 0 0 7
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 2 1 3 0 0 0 6
SingHealth Duke-NUS Institute of Precision Medicine 4 0 0 0 0 0 4
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
Fulgent Genetics,Fulgent Genetics 0 0 1 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

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