ClinVar Miner

Variants studied for nephronophthisis 11

Included ClinVar conditions (3):
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 total
27 37 167 25 8 262

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
TMEM67 27 37 167 25 8 262

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 23 35 118 24 0 200
Illumina Laboratory Services, Illumina 0 0 52 1 8 61
OMIM 4 0 0 0 0 4
Molecular Biology Laboratory, Fundació Puigvert 1 2 0 0 0 3
Genome-Nilou Lab 0 0 0 0 2 2
Precision Medicine Center, Zhengzhou University 0 0 2 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 1
3billion, Medical Genetics 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 1

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