Submissions for variant NM_030962.3(SBF2):c.2323G>A (p.Gly775Ser) (rs141330687)

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000175483	SCV000226967	benign	not specified	2014-11-09	criteria provided, single submitter	clinical testing
Invitae	RCV000438792	SCV000261821	benign	not provided	2019-03-01	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000206768	SCV000375066	uncertain significance	Charcot-Marie-Tooth disease type 4	2016-06-14	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics	RCV000438792	SCV000511181	likely benign	not provided	2016-10-10	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
GeneDx	RCV000175483	SCV000514466	likely benign	not specified	2017-08-01	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.
Genetic Services Laboratory, University of Chicago	RCV000175483	SCV000596939	uncertain significance	not specified	2015-08-26	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000438792	SCV000843561	benign	not provided	2019-08-12	criteria provided, single submitter	clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen	RCV000438792	SCV000891952	likely benign	not provided	2019-06-01	criteria provided, single submitter	clinical testing