Submissions for variant NM_000554.6(CRX):c.253-15G>A

gnomAD frequency: 0.00187  dbSNP: rs145805694

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000374438	SCV000413931	likely benign	Cone-rod dystrophy 2	2017-04-28	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	RCV000282603	SCV000413932	likely benign	Retinitis pigmentosa	2017-04-28	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	RCV000335244	SCV000413933	likely benign	Leber congenital amaurosis 7	2017-04-28	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.
CeGaT Center for Human Genetics Tuebingen	RCV000085996	SCV000575194	uncertain significance	not provided	2018-05-01	criteria provided, single submitter	clinical testing
Invitae	RCV001512740	SCV001720200	benign	Leber congenital amaurosis 7; Cone-rod dystrophy 2	2024-01-25	criteria provided, single submitter	clinical testing
GeneDx	RCV000085996	SCV002504206	likely benign	not provided	2020-04-24	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Retina International	RCV000085996	SCV000118139	not provided	not provided		no assertion provided	not provided
Clinical Genetics, Academic Medical Center	RCV000085996	SCV001923122	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000085996	SCV001951925	likely benign	not provided		no assertion criteria provided	clinical testing