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	RCV000198715	SCV000460476	likely benign	Joubert syndrome 3	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae	RCV000304449	SCV000634568	benign	Joubert syndrome	2019-12-31	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