ClinVar Miner

Variants studied for Retinitis pigmentosa 49

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
16 21 10 2 4 51

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CNGA1, LOC101927157 16 21 9 2 4 50
CNGB1 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 5 16 1 0 0 22
OMIM 10 0 0 0 0 10
Ocular Genomics Institute, Massachusetts Eye and Ear 2 2 2 0 0 6
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 2 0 2 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 2 1 3
Revvity Omics, Revvity 0 1 2 0 0 3
Genome-Nilou Lab 0 0 0 0 3 3
3billion, Medical Genetics 2 0 1 0 0 3
SingHealth Duke-NUS Institute of Precision Medicine 0 2 0 0 0 2
Baylor Genetics 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 1
Servicio Extremeño de Salud, Hospital de Mérida 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 1
DASA 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 1
DBGen Ocular Genomics 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 1

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