Submissions for variant NM_001174150.2(ARL13B):c.1151G>A (p.Gly384Glu)

gnomAD frequency: 0.00143  dbSNP: rs146264035

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001705515	SCV000518564	likely benign	not provided	2020-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25920555)
Fulgent Genetics, Fulgent Genetics	RCV000764518	SCV000895600	uncertain significance	Joubert syndrome 8	2018-10-31	criteria provided, single submitter	clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV000764518	SCV000923582	uncertain significance	Joubert syndrome 8	2019-01-01	criteria provided, single submitter	clinical testing
Invitae	RCV000764518	SCV001000702	likely benign	Joubert syndrome 8	2024-01-22	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000764518	SCV004234508	uncertain significance	Joubert syndrome 8	2023-11-20	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003912464	SCV004729222	likely benign	ARL13B-related disorder	2020-04-08	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).