Submissions for variant NM_000554.6(CRX):c.365G>A (p.Gly122Asp)

gnomAD frequency: 0.00614  dbSNP: rs61748441

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000153123	SCV000202583	benign	not specified	2013-12-27	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000086000	SCV000280868	benign	not provided	2016-01-13	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000373510	SCV000413934	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). 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.
Illumina Laboratory Services, Illumina	RCV000286039	SCV000413935	likely benign	Cone-rod dystrophy 2	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.
Illumina Laboratory Services, Illumina	RCV000339186	SCV000413936	likely benign	Leber congenital amaurosis 7	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000086000	SCV000883687	benign	not provided	2023-11-11	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001082272	SCV001020710	benign	Leber congenital amaurosis 7; Cone-rod dystrophy 2	2025-02-03	criteria provided, single submitter	clinical testing
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	RCV001258249	SCV001435163	benign	Central core myopathy		criteria provided, single submitter	research	The p.Gly122Asp variant in CRX has not been previously reported in individuals with Leber congenital amaurosis but was included on an array of >300 variants for this disease (PMID: 16123401), and has also been identified in >9% of Latino chromosomes and 60 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as benign for Leber congenital amaurosis.
GeneDx	RCV000086000	SCV001850356	benign	not provided	2019-06-15	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 31626798, 28512305, 27535533, 16123401)
Dept Of Ophthalmology, Nagoya University	RCV003888487	SCV004706300	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Breakthrough Genomics, Breakthrough Genomics	RCV000086000	SCV005209740	likely benign	not provided		criteria provided, single submitter	not provided
Retina International	RCV000086000	SCV000118143	not provided	not provided		no assertion provided	not provided
Department of Ophthalmology and Visual Sciences Kyoto University	RCV000086000	SCV000172553	probable-non-pathogenic	not provided		no assertion criteria provided	not provided	Converted during submission to Likely benign.