Submissions for variant NM_025114.4(CEP290):c.6960+10G>A

gnomAD frequency: 0.00305  dbSNP: rs75011402

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000434151	SCV000534246	likely benign	not specified	2016-12-01	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.
Eurofins Ntd Llc (ga)	RCV000434151	SCV000700748	benign	not specified	2017-02-28	criteria provided, single submitter	clinical testing
Invitae	RCV000861949	SCV001002371	benign	Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis	2024-01-30	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000434151	SCV002068468	likely benign	not specified	2021-08-24	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002480322	SCV002798827	likely benign	Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14	2021-07-23	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001833565	SCV002091823	benign	Leber congenital amaurosis	2019-12-10	no assertion criteria provided	clinical testing