ClinVar Miner

Variants in gene GPR179

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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
34 17 815 414 101 7 1285

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 27 10 694 384 95 4 1186
Congenital stationary night blindness 1E 9 3 130 27 30 3 199
Inborn genetic diseases 0 0 88 11 0 0 99
GPR179-related condition 0 1 0 30 5 0 36
not specified 0 0 1 6 14 0 19
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
Retinitis pigmentosa 0 0 2 0 0 0 2

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 25 4 680 372 77 0 1158
Illumina Laboratory Services, Illumina 0 0 127 23 30 0 180
Ambry Genetics 0 0 88 11 0 0 99
PreventionGenetics, part of Exact Sciences 0 1 0 30 5 0 36
GeneDx 1 2 7 1 22 0 33
Eurofins Ntd Llc (ga) 4 0 17 5 5 0 31
CeGaT Center for Human Genetics Tuebingen 0 1 0 12 1 0 14
Clinical Genetics, Academic Medical Center 0 0 1 2 9 0 12
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 9 2 0 12
OMIM 7 0 0 0 0 0 7
Blueprint Genetics 1 1 4 0 0 0 6
Fulgent Genetics, Fulgent Genetics 0 0 3 2 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 2 1 0 0 0 4
UniProtKB/Swiss-Prot 0 0 0 0 0 4 4
Revvity Omics, Revvity 0 1 2 0 0 0 3
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 2 1 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 2 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
3billion 1 1 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), 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
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 1 0 0 0 0 1

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