ClinVar Miner

Variants in gene GPR179

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 not provided total
12 8 147 27 32 4 219

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Congenital stationary night blindness, type 1E 8 1 123 27 30 0 185
not provided 5 4 19 0 1 4 33
not specified 0 0 1 6 5 0 11
Retinal dystrophy 1 1 4 0 0 0 6
Congenital Stationary Night Blindness, Recessive 0 0 5 0 0 0 5
Congenital stationary night blindness 1 2 0 0 0 0 3
Cataract (disease); Pigmentary retinopathy; Macular edema 0 0 2 0 0 0 2
Retinitis pigmentosa 0 0 2 0 0 0 2

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 127 23 30 0 180
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 4 0 17 5 5 0 31
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 6 2 0 8
OMIM 7 0 0 0 0 0 7
GeneDx 1 2 3 1 0 0 7
Blueprint Genetics 1 1 4 0 0 0 6
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 2 1 0 0 0 4
UniProtKB/Swiss-Prot 0 0 0 0 0 4 4
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 0 2 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 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 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health: University of Minnesota 0 1 0 0 0 0 1

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