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

Total submissions: 7

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