ClinVar Miner

Variants studied for Neonatal intrahepatic cholestasis due to citrin deficiency

Coded as:
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
25 6 11 0 2 8 48

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign not provided total
SLC25A13 24 6 10 2 7 46
LOC129998833, SLC25A13 1 0 1 0 1 2

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance benign not provided total
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 12 0 0 0 0 12
Baylor Genetics 5 4 1 0 0 10
GeneReviews 0 0 0 0 7 7
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 2 1 3 0 0 6
Genome-Nilou Lab 0 0 4 2 0 6
SingHealth Duke-NUS Institute of Precision Medicine 4 0 0 0 0 4
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital 3 0 1 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 2
Department of Pediatrics, The First Affiliated Hospital, Jinan University 2 0 0 0 0 2
3billion 2 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 2 0 0 0 0 2
Molecular Diagnostics Laboratory, Seoul National University Hospital 1 0 0 0 0 1
Central Laboratory, The First Affiliated Hospital, Jinan University 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 0 0 0 1
Royal Medical Services, Bahrain Defence Force Hospital 1 0 0 0 0 1

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