ClinVar Miner

Submissions for variant NM_207352.4(CYP4V2):c.801+1G>A

gnomAD frequency: 0.00001  dbSNP: rs761362530
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV002267676 SCV002549825 pathogenic Bietti crystalline corneoretinal dystrophy 2022-06-17 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous with NM_207352.4:c.414-1G>A._x000D_ Criteria applied: PVS1, PM3_SUP, PP4

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