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 5 97 31 10 4 144

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Congenital Stationary Night Blindness, Recessive 0 0 75 19 3 0 97
not provided 5 2 18 0 1 4 30
Congenital stationary night blindness, type 1E 8 1 8 6 2 0 24
not specified 0 0 1 6 5 0 11
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: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 82 19 3 0 104
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 1 3 1 0 0 6
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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2 0 0 0 0 2
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
NIHR Bioresource Rare Diseases,University of Cambridge 1 0 0 0 0 0 1
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 0 1

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