Submissions for variant NM_018718.3(CEP41):c.422+7G>A

gnomAD frequency: 0.00028  dbSNP: rs190680511

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000419652	SCV000532759	likely benign	not specified	2016-10-17	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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514531	SCV000609770	uncertain significance	not provided	2017-07-19	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001412142	SCV001614219	likely benign	Joubert syndrome 15	2024-01-19	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000419652	SCV003839353	likely benign	not specified	2022-07-20	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003932671	SCV004764117	likely benign	CEP41-related disorder	2019-10-28	no assertion criteria provided	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).