ClinVar Miner

Variants studied for Fanconi renotubular syndrome 1

Included ClinVar conditions (2):
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
5 2 27 15 2 1 50

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GATM 5 2 25 13 2 1 46
GATM, LOC130056991 0 0 1 2 0 0 3
EHHADH 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 1 0 23 15 0 0 39
OMIM 4 0 0 0 0 0 4
Genome-Nilou Lab 0 0 0 0 2 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi 0 1 0 0 0 0 1
Translational Genomics Group, Broad institute of MIT and Harvard 0 1 0 0 0 0 1

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