ClinVar Miner

Variants studied for TRPM1-related retinopathy

Included ClinVar conditions (1):
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
19 13 96 17 35 173

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 total
TRPM1 17 11 91 16 34 163
LOC126862088, TRPM1 1 2 5 1 1 9
MIR211, TRPM1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 91 15 34 140
OMIM 10 0 0 0 0 10
Genome-Nilou Lab 0 0 0 0 8 8
Revvity Omics, Revvity 1 4 0 0 0 5
Fulgent Genetics, Fulgent Genetics 0 1 2 1 1 5
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 2 1 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 2 1 0 0 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 1 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 0 0 0 0 2
Genomics England Pilot Project, Genomics England 1 1 0 0 0 2
Mendelics 0 0 0 1 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 1
3billion 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 1

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