ClinVar Miner

Submissions for variant NM_207352.4(CYP4V2):c.64C>G (p.Leu22Val) (rs1055138)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082840 SCV000114892 benign not specified 2013-07-25 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000082840 SCV000317259 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,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 Clinical Services Laboratory,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
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

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