ClinVar Miner

Variants in gene SLC25A13

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
26 3 99 13 7 1 140

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 8 1 65 0 2 0 76
Citrin deficiency 3 0 36 4 6 0 46
Citrullinemia type I 0 0 33 4 2 0 39
Neonatal intrahepatic cholestasis caused by citrin deficiency 17 1 4 0 0 1 23
not specified 0 0 0 9 6 0 15
Citrullinemia type II 8 0 3 0 0 0 11
Citrullinemia type II; Neonatal intrahepatic cholestasis caused by citrin deficiency 0 1 1 0 0 0 2

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 5 0 65 1 2 0 73
Illumina Clinical Services Laboratory,Illumina 3 0 35 4 2 0 44
GeneDx 3 1 2 9 3 0 18
GeneReviews 16 0 0 0 0 0 16
Invitae 3 0 4 0 4 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
SingHealth Duke-NUS Institute of Precision Medicine 4 0 0 0 0 0 4
PreventionGenetics 0 0 0 0 3 0 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 2 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 2 0 0 0 0 0 2
Fulgent Genetics 0 0 1 0 0 0 1
Central Laboratory, The First Affiliated Hospital, Jinan University 0 0 0 0 0 1 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 0 1

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