Submissions for variant NM_020366.4(RPGRIP1):c.2440C>T (p.Arg814Ter)

gnomAD frequency: 0.00001  dbSNP: rs759940113

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva	RCV000710047	SCV000840425	pathogenic	Leber congenital amaurosis	2018-04-13	criteria provided, single submitter	clinical testing	This variant was identified in combination with another variant in the same gene (compound heterozygosity) in patient with Leber congenital amaurosis.
Molecular Genetics Laboratory, Institute for Ophthalmic Research	RCV000754600	SCV000845194	pathogenic	Leber congenital amaurosis 6	2018-08-21	criteria provided, single submitter	research
Fulgent Genetics, Fulgent Genetics	RCV000762921	SCV000893339	pathogenic	Cone-rod dystrophy 13; Leber congenital amaurosis 6	2018-10-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000754600	SCV002044814	pathogenic	Leber congenital amaurosis 6	2021-11-07	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001800862	SCV002044825	pathogenic	Cone-rod dystrophy 13	2021-11-07	criteria provided, single submitter	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001724145	SCV001954932	pathogenic	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001724145	SCV001969404	pathogenic	not provided		no assertion criteria provided	clinical testing