ClinVar Miner

Variants studied for Infantile liver failure syndrome 1

Coded as:
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Gene type:
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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
4 4 7 2 1 16

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
LARS1 4 4 7 1 1 15
LARS1, LOC129389388 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Baylor Genetics 0 0 5 0 0 5
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2 1 0 0 0 3
Revvity Omics, Revvity Omics 0 1 1 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 0 2 0 2
Daryl Scott Lab, Baylor College of Medicine 0 0 2 0 0 2
OMIM 1 0 0 0 0 1
Mendelics 0 0 0 0 1 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 1 0 0 1

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