Submissions for variant NM_000180.4(GUCY2D):c.2101C>T (p.Pro701Ser) (rs34598902)

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics	RCV000173653	SCV000224788	benign	not specified	2014-10-03	criteria provided, single submitter	clinical testing
PreventionGenetics,PreventionGenetics	RCV000173653	SCV000302885	likely benign	not specified		criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine	RCV000173653	SCV000539262	benign	not specified	2016-03-28	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in 1000Genomes: 180/2178=8.2%
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories	RCV001283616	SCV001157142	benign	none provided	2020-08-25	criteria provided, single submitter	clinical testing
Invitae	RCV001518412	SCV001727098	benign	Cone-rod dystrophy 6; Leber congenital amaurosis 1	2020-11-26	criteria provided, single submitter	clinical testing
Retina International	RCV000084851	SCV000116987	not provided	not provided		no assertion provided	not provided
Department of Ophthalmology and Visual Sciences Kyoto University	RCV000084851	SCV000172506	probable-non-pathogenic	not provided		no assertion criteria provided	not provided	Converted during submission to Likely benign.
Laboratory of Genetics in Ophthalmology,Institut Imagine	RCV001250835	SCV001426325	likely benign	Leber congenital amaurosis 1		no assertion criteria provided	research