ClinVar Miner

Variants studied for Nephronophthisis 20

Coded as:
Minimum submission review status: Collection method:
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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
7 2 8 2 1 20

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 total
MAPKBP1 7 2 8 2 1 20

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
OMIM 6 0 0 0 0 6
Baylor Genetics 0 0 6 0 0 6
Fulgent Genetics, Fulgent Genetics 0 0 1 2 1 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 1
3billion 1 0 0 0 0 1

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