Submissions for variant NM_000554.6(CRX):c.196G>A (p.Val66Ile)

gnomAD frequency: 0.00231  dbSNP: rs61748438

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000297047	SCV000343554	benign	not specified	2016-08-25	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000331407	SCV000413930	likely benign	Leber congenital amaurosis 7	2018-03-06	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000085992	SCV000603228	benign	not provided	2021-08-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000085992	SCV000780642	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	CRX: BS2
Invitae	RCV001087305	SCV001021432	benign	Leber congenital amaurosis 7; Cone-rod dystrophy 2	2024-01-31	criteria provided, single submitter	clinical testing
Mendelics	RCV000990234	SCV001141111	likely benign	Leber congenital amaurosis 1	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001128897	SCV001288390	benign	Retinitis pigmentosa	2018-03-06	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV001135902	SCV001295708	benign	Cone-rod dystrophy 2	2018-03-06	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV000085992	SCV001752982	likely benign	not provided	2018-12-13	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27013732, 27884173, 16123401, 24066033, 24265693)
Dept Of Ophthalmology, Nagoya University	RCV003888486	SCV004706293	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Retina International	RCV000085992	SCV000118135	not provided	not provided		no assertion provided	not provided
Clinical Genetics, Academic Medical Center	RCV000085992	SCV001925326	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000085992	SCV001968278	likely benign	not provided		no assertion criteria provided	clinical testing