ClinVar Miner

Submissions for variant NM_207352.4(CYP4V2):c.802-7C>T

gnomAD frequency: 0.36293  dbSNP: rs3817184
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153130 SCV000202590 benign not specified 2014-03-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000153130 SCV000317261 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000260351 SCV000448845 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 RCV000320079 SCV000448846 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 RCV001521790 SCV001731193 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001521790 SCV001836960 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000260351 SCV001876508 benign Bietti crystalline corneoretinal dystrophy 2021-07-30 criteria provided, single submitter clinical testing

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