ClinVar Miner

Submissions for variant NM_207352.4(CYP4V2):c.958C>T (p.Arg320Ter)

gnomAD frequency: 0.00001  dbSNP: rs199476194
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000032549 SCV000056216 pathologic Bietti crystalline corneoretinal dystrophy 2012-04-12 no assertion criteria provided curation Converted during submission to Pathogenic.
The Key Laboratory for Human Disease Gene Study of Sichuan Province, Sichuan Academy of Medical Sciences & Sichuan Provincial People’s Hospital RCV002267722 SCV002061914 pathogenic Retinitis pigmentosa 2021-06-01 no assertion criteria provided case-control It provides a new screening target for prenatal diagnosis of retinitis pigmentosa.

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