ClinVar Miner

Variants studied for Retinitis pigmentosa 19

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
33 21 4 0 17 72

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
ABCA4 30 20 2 15 64
ABCA4, LOC126805793 2 1 1 2 6
ABCA4, LOC126805794 1 0 1 0 2

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance benign total
Genome-Nilou Lab 0 0 0 17 17
Genomics England Pilot Project, Genomics England 6 9 0 0 15
3billion, Medical Genetics 9 0 0 0 9
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 4 1 0 0 5
OMIM 4 0 0 0 4
Institute of Medical Molecular Genetics, University of Zurich 0 4 0 0 4
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 0 1 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 1 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 3 0 0 0 3
Wuhan Primbio Medical Laboratory 1 2 0 0 3
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 1 1 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 1 0 2
DBGen Ocular Genomics 1 0 1 0 2
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 1 0 0 2
MGZ Medical Genetics Center 0 0 1 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 1
Genetics Laboratory, Department of Biology, Semnan University 1 0 0 0 1
Pangenia Genomics, Pangenia Inc. 1 0 0 0 1
Dr.Nikuei Genetic Center 1 0 0 0 1

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