Submissions for variant NM_025114.4(CEP290):c.3574-9del (rs10717563)

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000082247	SCV000114196	benign	not specified	2013-11-20	criteria provided, single submitter	clinical testing
Invitae	RCV001080740	SCV000252869	benign	Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis	2019-12-31	criteria provided, single submitter	clinical testing
PreventionGenetics,PreventionGenetics	RCV000082247	SCV000314547	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000313246	SCV000381497	benign	Meckel-Gruber syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000370292	SCV000381498	benign	Bardet-Biedl syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000268851	SCV000381499	benign	Leber congenital amaurosis	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000307583	SCV000381500	benign	Joubert syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000364690	SCV000381501	benign	Renal dysplasia and retinal aplasia	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000827178	SCV000968806	benign	not provided	2018-06-11	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.