ClinVar Miner

Variants studied for renal hypodysplasia/aplasia 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 total
5 4 136 53 19 217

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 total
RET 1 0 106 35 8 150
UPK3A 0 0 18 12 6 36
ITGA8 4 4 6 4 3 21
LOC106736614, RET 0 0 5 2 1 8
LOC130067680, UPK3A 0 0 1 0 1 2

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 129 49 16 194
OMIM 3 0 3 0 0 6
Fulgent Genetics, Fulgent Genetics 1 0 0 3 0 4
Baylor Genetics 0 0 3 0 0 3
Revvity Omics, Revvity 0 1 2 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 3 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 3 3
Genome-Nilou Lab 0 0 0 0 3 3
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 1 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 1 0 0 0 0 1

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