Submissions for variant NM_001034853.2(RPGR):c.3396C>T (p.Asn1132=)

gnomAD frequency: 0.12023  dbSNP: rs12687163

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000132610	SCV000971090	benign	not provided	2018-04-26	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002055848	SCV002403318	benign	Primary ciliary dyskinesia	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000132610	SCV002759564	benign	not provided	2021-08-27	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003888550	SCV004707067	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Breakthrough Genomics, Breakthrough Genomics	RCV000132610	SCV005276083	benign	not provided		criteria provided, single submitter	not provided
Department of Ophthalmology and Visual Sciences Kyoto University	RCV000132610	SCV000172561	probable-non-pathogenic	not provided		no assertion criteria provided	not provided	Converted during submission to Likely benign.