ClinVar Miner

Variants studied for Infantile liver failure syndrome 2

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
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
10 6 1 1 0 17

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 total
NBAS 10 6 1 1 17

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
OMIM 5 0 0 0 5
Mendelics 0 4 0 1 5
Laboratory of Medical Genetics, University of Torino 3 0 0 0 3
Laboratory of Jean-Laurent Casanova,The Rockefeller University 2 0 0 0 2
Kids Research, The Children's Hospital at Westmead 0 2 0 0 2
CHU Sainte-Justine Research Center,University of Montreal 1 0 0 0 1
Reutter Lab, Institute of Human Genetics, University Hospital Bonn 0 0 1 0 1

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