ClinVar Miner

Variants studied for primary Fanconi syndrome

Included ClinVar conditions (5):
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
11 23 179 33 6 1 249

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SLC34A1 4 17 108 15 4 0 148
GATM 6 5 61 13 2 1 84
EHHADH 1 1 8 2 0 0 12
GATM, LOC130056991 0 0 2 2 0 0 4
F12, SLC34A1 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 5 16 167 31 2 0 221
OMIM 6 0 0 0 0 0 6
Genome-Nilou Lab 0 0 0 0 4 0 4
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi 0 3 0 0 0 0 3
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 0 2 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 0 0 2
3billion, Medical Genetics 0 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 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
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Arcensus 0 1 0 0 0 0 1
Translational Genomics Group, Broad institute of MIT and Harvard 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Institute of Metabolism and Integrative Biology, Fudan University 0 1 0 0 0 0 1

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