Submissions for variant NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) (rs148000791)

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
UCLA Clinical Genomics Center, UCLA	RCV000198715	SCV000255320	likely pathogenic	Joubert syndrome 3	2012-11-20	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics	RCV000132677	SCV000281530	benign	not provided	2015-10-30	criteria provided, single submitter	clinical testing
PreventionGenetics,PreventionGenetics	RCV000249126	SCV000312888	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000304449	SCV000460476	likely benign	Joubert syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000132677	SCV000634568	benign	not provided	2018-12-20	criteria provided, single submitter	clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000249126	SCV000702284	benign	not specified	2016-11-09	criteria provided, single submitter	clinical testing
GeneDx	RCV000249126	SCV000728493	likely benign	not specified	2018-01-03	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.
Department of Ophthalmology and Visual Sciences Kyoto University	RCV000132677	SCV000172629	probable-non-pathogenic	not provided		no assertion criteria provided	not provided	Converted during submission to Likely benign.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen	RCV000198715	SCV000734478	likely benign	Joubert syndrome 3		no assertion criteria provided	clinical testing