ClinVar Miner

Variants in gene TRPM1

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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
35 26 325 90 43 478

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 18 9 240 76 23 357
Congenital stationary night blindness, type 1C 16 7 95 16 34 165
Congenital stationary night blindness 3 8 0 0 0 11
Retinal dystrophy 2 2 3 0 0 7
not specified 0 0 0 1 5 6
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: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 12 8 215 76 21 332
Illumina Clinical Services Laboratory,Illumina 0 0 96 15 34 145
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 3 0 24 1 5 33
OMIM 10 0 0 0 0 10
GeneDx 2 0 5 0 1 8
CeGaT Praxis fuer Humangenetik Tuebingen 2 0 5 1 0 8
Blueprint Genetics 2 2 3 0 0 7
NIHR Bioresource Rare Diseases, University of Cambridge 0 7 0 0 0 7
Baylor Genetics 4 0 0 0 0 4
Sharon lab,Hadassah-Hebrew University Medical Center 3 1 0 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 2 1 0 0 3
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 0 2 0 0 2
Fulgent Genetics,Fulgent Genetics 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
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 1
Mendelics 0 0 0 1 0 1
Developmental Genetics Unit,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
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 1

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