ClinVar Miner

Variants studied for Congenital stationary night blindness 1C

Coded as:
Minimum submission review status: Collection method:
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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
23 17 100 17 35 184

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TRPM1 19 12 92 16 34 166
LOC126862088, TRPM1 3 2 5 1 1 11
GNAT1 0 2 0 0 0 2
GRM6 0 1 1 0 0 2
NYX 0 0 2 0 0 2
MIR211, TRPM1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 91 15 34 140
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 4 4 3 0 0 11
OMIM 10 0 0 0 0 10
Genome-Nilou Lab 0 0 0 0 8 8
Fulgent Genetics, Fulgent Genetics 0 1 3 1 1 6
Revvity Omics, Revvity 1 4 0 0 0 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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 0 0 0 0 2
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
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, Medical Genetics 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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