ClinVar Miner

Submissions for variant NM_207352.4(CYP4V2):c.-130del

gnomAD frequency: 0.01110  dbSNP: rs200054565
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000270029 SCV000448805 likely benign Bietti crystalline corneoretinal dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000325117 SCV000448806 likely benign Corneal Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing

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