Submissions for variant NM_000843.4(GRM6):c.727G>T (p.Val243Phe)

dbSNP: rs17078894

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000298800	SCV000338396	benign	not specified	2016-01-25	criteria provided, single submitter	clinical testing
GeneDx	RCV000298800	SCV000517311	likely benign	not specified	2015-05-26	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.
Invitae	RCV000086062	SCV001100379	benign	not provided	2024-01-26	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002490748	SCV002801244	likely benign	Congenital stationary night blindness 1B	2022-04-27	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000086062	SCV004185324	benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	GRM6: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003915113	SCV004730807	benign	GRM6-related condition	2019-05-09	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Retina International	RCV000086062	SCV000118206	not provided	not provided		no assertion provided	not provided