Submissions for variant NM_207352.4(CYP4V2):c.846T>C (p.Cys282=)

gnomAD frequency: 0.07854  dbSNP: rs3736456

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000153132	SCV000202592	benign	not specified	2014-04-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000288722	SCV000448851	benign	Bietti crystalline corneoretinal dystrophy	2018-01-13	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	RCV000325070	SCV000448852	benign	Corneal dystrophy	2018-01-13	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.
Invitae	RCV001514370	SCV001722198	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001514370	SCV001831000	benign	not provided	2021-05-04	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003888587	SCV004706587	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000153132	SCV001740699	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000153132	SCV001958856	benign	not specified		no assertion criteria provided	clinical testing