Submissions for variant NM_001034853.2(RPGR):c.3183GGA[2] (p.Glu1066del)

dbSNP: rs746535151

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill	RCV001255232	SCV001431578	uncertain significance	Primary ciliary dyskinesia	2018-11-08	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001255232	SCV002427945	likely benign	Primary ciliary dyskinesia	2025-01-20	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003887975	SCV004707073	likely benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Clinical Genetics, Academic Medical Center	RCV001699527	SCV001919438	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001699527	SCV001969745	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004756203	SCV002759493	likely benign	RPGR-related disorder	2024-09-16	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).