ClinVar Miner

Submissions for variant NM_173483.4(CYP4F22):c.421+1G>A

gnomAD frequency: 0.00001  dbSNP: rs773886415
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics, University Medical Center Freiburg RCV000678411 SCV000804482 pathogenic Autosomal recessive congenital ichthyosis 5 2018-04-23 no assertion criteria provided clinical testing

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