ClinVar Miner

Submissions for variant NM_019098.4(CNGB3):c.1208G>A (rs147876778)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132679 SCV000172631 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000435881 SCV000225390 likely benign not specified 2015-04-22 criteria provided, single submitter clinical testing
GeneDx RCV000435881 SCV000512655 likely benign not specified 2016-11-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000501136 SCV000588362 pathogenic Abnormality of the eye 2017-06-18 criteria provided, single submitter clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000678546 SCV000804624 uncertain significance Retinitis pigmentosa 2016-09-01 no assertion criteria provided clinical testing
Institute for Ophthalmic Research,University Tuebingen RCV000174144 SCV000575809 likely pathogenic Achromatopsia 3 2017-03-27 no assertion criteria provided research
Institute for Ophthalmic Research,University Tuebingen RCV000597492 SCV000700212 pathogenic Achromatopsia 2018-03-20 criteria provided, single submitter research

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