Submissions for variant NM_000329.3(RPE65):c.1338+20A>C

gnomAD frequency: 0.03055  dbSNP: rs12564647

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000212978	SCV000171377	benign	not specified	2011-09-01	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.
PreventionGenetics, part of Exact Sciences	RCV000212978	SCV000303624	benign	not specified		criteria provided, single submitter	clinical testing
Counsyl	RCV000665902	SCV000790103	benign	Leber congenital amaurosis 2; Retinitis pigmentosa 20	2017-03-06	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000665902	SCV001723938	benign	Leber congenital amaurosis 2; Retinitis pigmentosa 20	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001533574	SCV001750237	benign	Leber congenital amaurosis 2	2021-07-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001533575	SCV001750238	benign	Retinitis pigmentosa 87 with choroidal involvement	2021-07-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000085167	SCV005287901	benign	not provided		criteria provided, single submitter	not provided
Retina International	RCV000085167	SCV000117304	not provided	not provided		no assertion provided	not provided