ClinVar Miner

Variants in gene TRPM1

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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
58 46 603 433 129 1180

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 45 27 502 411 122 1083
Congenital stationary night blindness 1C 15 11 91 16 34 162
Inborn genetic diseases 0 0 54 4 0 58
TRPM1-related condition 2 1 3 22 1 29
not specified 0 0 1 0 12 13
Congenital stationary night blindness 3 8 0 0 0 11
Retinal dystrophy 2 2 3 0 0 7
Congenital Stationary Night Blindness, Recessive 0 0 4 0 0 4
Retinitis pigmentosa 0 0 2 0 0 2
Ependymoma 0 0 1 0 0 1
Intellectual disability 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 43 23 478 401 59 1004
Illumina Laboratory Services, Illumina 0 0 91 14 33 138
GeneDx 2 3 13 3 75 96
Ambry Genetics 0 0 54 4 0 58
Eurofins Ntd Llc (ga) 2 0 24 0 5 31
PreventionGenetics, part of Exact Sciences 2 1 3 22 1 29
CeGaT Center for Human Genetics Tuebingen 2 0 4 4 5 15
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 3 8 2 14
Clinical Genetics, Academic Medical Center 0 0 2 3 7 12
OMIM 10 0 0 0 0 10
Genome-Nilou Lab 0 0 0 0 8 8
Blueprint Genetics 2 2 3 0 0 7
NIHR Bioresource Rare Diseases, University of Cambridge 0 7 0 0 0 7
Fulgent Genetics, Fulgent Genetics 0 1 2 1 1 5
Revvity Omics, Revvity 1 3 0 0 0 4
Sharon lab, Hadassah-Hebrew University Medical Center 3 1 0 0 0 4
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 2 0 0 2
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 1 1 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 1 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 2 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 1 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 2
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 1 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 0 0 1
Mendelics 0 0 0 1 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
McDonnell Genome Institute, Washington University in St. Louis 0 0 1 0 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
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 1 0 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 1 1 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 1

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