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

gnomAD frequency: 0.00115  dbSNP: rs148000791

Total submissions: 13

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 Laboratory Services,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	2021-12-13	criteria provided, single submitter	clinical testing
Eurofins NTD LLC (GA)	RCV000249126	SCV000702284	benign	not specified	2016-11-09	criteria provided, single submitter	clinical testing
GeneDx	RCV000132677	SCV000728493	benign	not provided	2021-03-30	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24690944, 27491411, 29343940, 22995991, 25356976, 21228398, 18054307, 26035799, 26035800, 22425360, 28976722, 28391287, 25326637, 31938409)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000249126	SCV002103920	likely benign	not specified	2022-02-18	criteria provided, single submitter	clinical testing
Molecular Genetics, Royal Melbourne Hospital	RCV000198715	SCV002503690	benign	Joubert syndrome 3	2021-10-04	criteria provided, single submitter	clinical testing	East Asian population allele frequency is 4.5% (rs148000791, 874/19,504 alleles, 22 homozygotes in gnomAD v2.1). Based on the classification scheme RMH ACMG Guidelines v1.1.1, this variant is classified as Benign. Following criteria met: BA1
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
Clinical Genetics, Academic Medical Center	RCV000249126	SCV001925182	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000249126	SCV001977852	benign	not specified		no assertion criteria provided	clinical testing