Submissions for variant NM_207352.4(CYP4V2):c.64C>G (p.Leu22Val)

gnomAD frequency: 0.46276  dbSNP: rs1055138

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000082840	SCV000114892	benign	not specified	2013-07-25	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000082840	SCV000317259	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000032544	SCV000448813	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	RCV000278726	SCV000448814	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.
Mendelics	RCV000032544	SCV001136794	benign	Bietti crystalline corneoretinal dystrophy	2019-05-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000132719	SCV001726720	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000032544	SCV001876505	benign	Bietti crystalline corneoretinal dystrophy	2021-07-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000132719	SCV001899699	benign	not provided	2020-03-14	criteria provided, single submitter	clinical testing
Molecular Genetics, Royal Melbourne Hospital	RCV000032544	SCV002503667	benign	Bietti crystalline corneoretinal dystrophy	2020-11-20	criteria provided, single submitter	clinical testing	Population allele frequency is 45% (101,504/227,310 alleles; gnomAD v2.0.2). Based on the classification scheme RMH ACMG Guidelines v1.1.1, this variant is classified as Benign. Following criteria met: BA1
Dept Of Ophthalmology, Nagoya University	RCV003887878	SCV004706571	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Breakthrough Genomics, Breakthrough Genomics	RCV000132719	SCV005306602	benign	not provided		criteria provided, single submitter	not provided
GeneReviews	RCV000032544	SCV000056211	pathologic	Bietti crystalline corneoretinal dystrophy	2012-04-12	no assertion criteria provided	curation	Converted during submission to Pathogenic.
Department of Ophthalmology and Visual Sciences Kyoto University	RCV000132719	SCV000172673	probable-non-pathogenic	not provided		no assertion criteria provided	not provided	Converted during submission to Likely benign.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000032544	SCV000734333	benign	Bietti crystalline corneoretinal dystrophy		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000082840	SCV001921231	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000082840	SCV001957091	benign	not specified		no assertion criteria provided	clinical testing