Submissions for variant NM_201253.3(CRB1):c.664G>A (p.Glu222Lys)

gnomAD frequency: 0.00014  dbSNP: rs114846212

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000347681	SCV000352790	likely benign	Retinitis pigmentosa	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000384124	SCV000352791	likely benign	Pigmented paravenous retinochoroidal atrophy	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000285066	SCV000352792	likely benign	Leber congenital amaurosis 8	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000945440	SCV001091458	benign	Retinitis pigmentosa 12; Leber congenital amaurosis 8	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000285066	SCV004178846	likely benign	Leber congenital amaurosis 8	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000384124	SCV004178847	likely benign	Pigmented paravenous retinochoroidal atrophy	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003454863	SCV004178848	likely benign	Retinitis pigmentosa 12	2023-04-11	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003888696	SCV004704941	likely benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
PreventionGenetics, part of Exact Sciences	RCV004537638	SCV004718474	benign	CRB1-related disorder	2019-08-09	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
CeGaT Center for Human Genetics Tuebingen	RCV004567846	SCV005050282	uncertain significance	not provided	2024-05-01	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001271894	SCV001453388	likely benign	Leber congenital amaurosis	2020-02-13	no assertion criteria provided	clinical testing